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Phenylketonuria is a disorder that increases phenylalanine levels in the blood. If left untreated from birth, it can cause permanent intellectual disabilities in children as well as risks of intellectual disabilities for babies born to pregnant women with PKU. Symptoms of PKU include low birth weight, behavioral problems, mood issues, seizures, and increased risk of pregnancy loss if the condition is uncontrolled. Early treatment with a low-phenylalanine diet can prevent these issues.
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Phenylketonuria ..
Phenylketonuria (PKU) is a rare genetic disorder caused by a mutation that prevents the body from breaking down phenylalanine, leading to its buildup in the blood and brain. PKU is treated through a low-protein diet and dietary supplements to control phenylalanine levels and prevent intellectual disabilities and other health issues. Left untreated, PKU can cause permanent brain damage and intellectual disabilities. Newborns are screened for PKU through a heel prick blood test to enable early treatment and management of the disorder.
Phenylketonuria
Phenylketonuria (PKU) is a genetic disorder affecting the metabolism of the amino acid phenylalanine. Due to a missing enzyme, phenylalanine cannot be converted to tyrosine and builds up in the blood, resulting in intellectual disabilities if left untreated. Symptoms include mental retardation, seizures, low IQ, and a mouse-like odor in urine. Treatment involves a low-protein diet to control phenylalanine levels from an early age to prevent brain damage. Less severe forms have a smaller risk of issues and may not require dietary treatment.
Phenylketonuria alex gandhi and athavan balendran
Phenylketonuria is a genetic disorder caused by a mutation in the PAH gene, which results in excessive levels of the amino acid phenylalanine. If left untreated, it can cause intellectual disabilities, stunted growth, eczema, small head size, and seizures. Treatment involves maintaining appropriate phenylalanine levels through diet control. It occurs in about 1 in 10,000 to 15,000 births and can be diagnosed via a blood test.
Phenylketonuria: Genetic diseases
Phenylketonuria is a genetic disorder discovered by Dr. Ivar Asbjørn Følling in which the enzyme phenylalanine hydroxylase is deficient, causing an excess buildup of the amino acid phenylalanine. Dr. Følling discovered the condition in the 1930s when he observed two mentally retarded siblings excreting phenylpyruvic acid in their urine, turning it an unusual deep green color with chemical testing. Further research showed the condition was hereditary and could be successfully treated through a diet low in phenylalanine to prevent intellectual disabilities. Newborns are now routinely tested for the disorder to begin dietary treatment early if needed.
Phenylketonuria #
A six-year-old boy was referred to the hospital for aggressive behavior and developmental delays. He was found to have phenylketonuria (PKU), an autosomal recessive disorder caused by a mutation in the PAH gene which results in high phenylalanine levels and intellectual disability if left untreated. Testing found elevated phenylalanine levels in his blood and urine. PKU must be treated through life with a low-phenylalanine diet to prevent neurological damage, as there is currently no cure. Gene therapy research aims to introduce a functional PAH gene to allow breakdown of phenylalanine in the liver.
PKU
PKU is a genetic disorder caused by an inability to break down the amino acid phenylalanine. Left untreated, it can cause intellectual disabilities and developmental issues. The standard treatment is a phenylalanine-restricted diet that avoids foods high in phenylalanine like meat, eggs, and dairy. Strict dietary management can help those with PKU develop normally.
Phenylketonuria (pku)
PHENYLKETONURIA is due to hyperphenylalaninemia
Classic variant of PKU is due to the absence of phenylalanine hydroxylase.
Phenylketonuria
Phenylketonuria (PKU) is a genetic metabolic disorder that results from the body's inability to break down the essential amino acid phenylalanine. This causes high levels of phenylalanine in the blood, which can lead to intellectual disabilities and neurological problems if left untreated. PKU is treated through a strict diet that is low in phenylalanine and supplemented with special medical formulas to provide proper nutrition. Early diagnosis and treatment are important to prevent complications and allow for normal development.
Recommended
Phenylketonuria ..
Phenylketonuria (PKU) is a rare genetic disorder caused by a mutation that prevents the body from breaking down phenylalanine, leading to its buildup in the blood and brain. PKU is treated through a low-protein diet and dietary supplements to control phenylalanine levels and prevent intellectual disabilities and other health issues. Left untreated, PKU can cause permanent brain damage and intellectual disabilities. Newborns are screened for PKU through a heel prick blood test to enable early treatment and management of the disorder.
Phenylketonuria
Phenylketonuria (PKU) is a genetic disorder affecting the metabolism of the amino acid phenylalanine. Due to a missing enzyme, phenylalanine cannot be converted to tyrosine and builds up in the blood, resulting in intellectual disabilities if left untreated. Symptoms include mental retardation, seizures, low IQ, and a mouse-like odor in urine. Treatment involves a low-protein diet to control phenylalanine levels from an early age to prevent brain damage. Less severe forms have a smaller risk of issues and may not require dietary treatment.
Phenylketonuria alex gandhi and athavan balendran
Phenylketonuria is a genetic disorder caused by a mutation in the PAH gene, which results in excessive levels of the amino acid phenylalanine. If left untreated, it can cause intellectual disabilities, stunted growth, eczema, small head size, and seizures. Treatment involves maintaining appropriate phenylalanine levels through diet control. It occurs in about 1 in 10,000 to 15,000 births and can be diagnosed via a blood test.
Phenylketonuria: Genetic diseases
Phenylketonuria is a genetic disorder discovered by Dr. Ivar Asbjørn Følling in which the enzyme phenylalanine hydroxylase is deficient, causing an excess buildup of the amino acid phenylalanine. Dr. Følling discovered the condition in the 1930s when he observed two mentally retarded siblings excreting phenylpyruvic acid in their urine, turning it an unusual deep green color with chemical testing. Further research showed the condition was hereditary and could be successfully treated through a diet low in phenylalanine to prevent intellectual disabilities. Newborns are now routinely tested for the disorder to begin dietary treatment early if needed.
Phenylketonuria #
A six-year-old boy was referred to the hospital for aggressive behavior and developmental delays. He was found to have phenylketonuria (PKU), an autosomal recessive disorder caused by a mutation in the PAH gene which results in high phenylalanine levels and intellectual disability if left untreated. Testing found elevated phenylalanine levels in his blood and urine. PKU must be treated through life with a low-phenylalanine diet to prevent neurological damage, as there is currently no cure. Gene therapy research aims to introduce a functional PAH gene to allow breakdown of phenylalanine in the liver.
PKU
PKU is a genetic disorder caused by an inability to break down the amino acid phenylalanine. Left untreated, it can cause intellectual disabilities and developmental issues. The standard treatment is a phenylalanine-restricted diet that avoids foods high in phenylalanine like meat, eggs, and dairy. Strict dietary management can help those with PKU develop normally.
Phenylketonuria (pku)
PHENYLKETONURIA is due to hyperphenylalaninemia
Classic variant of PKU is due to the absence of phenylalanine hydroxylase.
Phenylketonuria
Phenylketonuria (PKU) is a genetic metabolic disorder that results from the body's inability to break down the essential amino acid phenylalanine. This causes high levels of phenylalanine in the blood, which can lead to intellectual disabilities and neurological problems if left untreated. PKU is treated through a strict diet that is low in phenylalanine and supplemented with special medical formulas to provide proper nutrition. Early diagnosis and treatment are important to prevent complications and allow for normal development.
Phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. A birth defect that causes an amino acid called phenylalanine to build up in the body.
Newborns should be screened for PKU.
Untreated phenylketonuria can lead to brain damage, intellectual disabilities, behavioural symptoms or seizures.
Treatment includes a strict diet with limited protein.
Phenylketonuria
Phenylketonuria is a genetic disease caused by the absence of the enzyme phenylalanine hydroxylase, which is needed to metabolize the amino acid phenylalanine. This results in an accumulation of phenylalanine in the blood and urine. If left untreated, it can cause intellectual disability and brain damage in infants. Treatment involves a lifelong low-protein diet supplemented by medical foods to restrict phenylalanine intake. Strict dietary management and monitoring by a medical team is needed to prevent complications and achieve normal development.
Phenylketonuria
Phenylketonuria (PKU) is an inherited metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH), which is responsible for breaking down the amino acid phenylalanine. Without proper treatment, toxic levels of phenylalanine can accumulate in the body and cause permanent brain damage. The document discusses PKU genetics, symptoms, statistics on rates around the world, treatment through a phenylalanine-restricted diet, and implications for pregnancy. Recent advances have improved treatment and outcomes for those with PKU.
Aminoaciduria phenylketonuria
Phenylketonuria is one of fthe inborn error of metabolism. Its characteristically error in amino acid metabolism. This causes aminoaciduria. Phenylalanine is an amino acid requied for protein synthesis as well as synthesis of tyrosine. Deficiency of the enzyme phenylalanine hyydroxylase triggers the accumulation of phenylalanine in the blood and subsequent conversion and transamination to ohenylpyruvate which is a phenylketone. This causes accumulation of phenylketones in urine with characteristicc mousy smell.
This slide discussess the causes and biochemistry of this error.
Phenylketonuria PKU - Inborn error metabolism
The slides gives you a complete information on the inborn error metabolic disease Phenylketonuria (PKU) its cause, symptoms, mechanism and dietary management.
Fetal alcohol syndrome
presentation on fetal alcohol syndrome. thousands of infants are effected by this condition all around the world. its causes and effects. nutrition to deal with this condition.
Phenylketonuria ( PKU) - Dr Padmesh
This document discusses phenylketonuria (PKU), a genetic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase. This enzyme is needed to break down the amino acid phenylalanine. Without it, phenylalanine builds up to high levels in the blood and brain, which can cause intellectual disability if not treated early. The document outlines the causes, symptoms, diagnosis through newborn screening, and lifelong treatment through a phenylalanine-restricted diet for PKU patients. It also discusses milder forms that do not require dietary treatment and the rare cases caused by a deficiency in the cofactor tetrahydrobiopterin.
Phenylketonuria
This is a presentation of PKU case and genetic counseling. Presented on April 2010 in Genetic Counseling master programme, FMDU, Semarang
angelmansyndrome
Angelman Syndrome is a genetic disorder characterized by developmental delay, neurological problems, frequent laughter and smiling, and absence of speech. It is caused by the absence or deletion of the UBE3A gene on chromosome 15, which regulates a protein important for neural development. While there is no known cure, early diagnosis and therapies can help improve quality of life by managing symptoms like seizures, providing physical and communication support.
Fetal Alcohol Syndrome
FETAL ALCOHOL SYNDROME (FAS) is the leading known cause of mental retardation
and birth defects in the world. Fetal alcohol syndrome is a pattern of physical, behavioral and
cognitive abnormalities seen in individuals exposed to alcohol in uterus. Because alcohol is a
known teratogen and the damage done to a fetus by alcohol exposure is permanent, public
education about the dangers of prenatal alcohol exposure has been extensive. Many of the
features of the fetal alcohol syndrome are secondary to the effect of alcohol on brain
development. These include microcephaly, short palpebral fissures, the long smooth philtrum
and thin vermilion of the upper lip, joint anomalies, altered palmar crease pattern, and mental
retardation. Animal studies as well as a limited amount of human data also show that
maternal genotype is a key player : Advances in the development of novel antioxidant
therapies as an approach for fetal alcohol syndrome prevention. Peptides NAPVSIPQ (NAP)
and SALLRSIPA (SAL), related to activity-dependent neuroprotective protein (ADNP),
prevent alcohol-induced damage in a mouse model of FAS. In a recent study, the thyroxin
reversed the deficit both in the level of their genes and their social behaviour, research is
going on how the prenatal thyroid hormone supplementation reverses the behavioural deficits
in the fetal alcohol spectrum disorder model. Another study used a priori approach to assess
molecular phenotype in the cranial neural folds (head fold) of early mouse embryos soon
after maternal alcohol treatment. FAS can be modulated pharmacologically with PK11195, a
potent ligand with specific binding to the mitochondrial peripheral-type benzodiazepine
receptor recognition site. PK11195 has been shown to protect early mouse embryos from eye
and brain defects induced with diverse teratogens and to protect adult tissues from some
inflammatory lesions. Microarray transcript profiling of the embryonic head fold at 3.0 hr
after alcohol exposure or PK11195 counter-exposure enabled prioritization of candidate
pathways that integrate the genomic response with genetic susceptibility of the system. These
findings are consistent with the growing view that developmental exposure to alcohol alters
common signalling pathways linking receptor activation to cytoskeletal reorganization. The
programmatic shift in cell motility and metabolic capacity further implies cell signals and
responses that are integrated by the mitochondrial recognition site for PK11195.
CONCLUSIONS: Until the advent of effective prevention measures, it will remain
necessary to seek ways to treat the life-long neurobehavioral consequences of prenatal
alcohol exposure. Nevertheless, alcohol is a widely accepted and legal social drug, and many
pregnant mothers continue to drink it while pregnant. Whereas, FAS is totally preventable by
avoiding alco
Effects of Drug Use on Infants
Several factors are common among female substance abusers including a history of abuse and mental illness. Pregnant women who abuse substances are more likely to experience domestic violence and their children often face developmental issues. Prenatal exposure to substances like opioids, cocaine, marijuana, alcohol, and tobacco can lead to low birth weight, birth defects, developmental delays, withdrawal symptoms, and behavioral problems. While not all exposed children are negatively impacted, the home environment plays a key role in development. Healthcare providers should assess home situations and provide supportive services to families affected by substance abuse.
phenylketonuria
PKU is an autosomal recessive genetic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase. This enzyme is necessary to break down the amino acid phenylalanine. Without it, phenylalanine builds up to toxic levels in the blood and brain, which can lead to intellectual disabilities if left untreated. PKU is typically detected via newborn screening and treated through a lifelong low-phenylalanine diet. Some cases may also be managed through medication. Strict dietary control is necessary before and during pregnancy for women with PKU to prevent complications in their babies.
Shaken Baby Syndrome: A Comprehensive Review of Manifestation, Diagnosis, Man...
IOSR Journal of Nursing and health Science is ambitious to disseminate information and experience in education, practice and investigation between medicine, nursing and all the sciences involved in health care.
Nursing & Health Sciences focuses on the international exchange of knowledge in nursing and health sciences. The journal publishes peer-reviewed papers on original research, education and clinical practice.
By encouraging scholars from around the world to share their knowledge and expertise, the journal aims to provide the reader with a deeper understanding of the lived experience of nursing and health sciences and the opportunity to enrich their own area of practice
Fetal Alcohol Spectrum Disorder
Fetal Alcohol Spectrum Disorder (FASD) is an umbrella term describing the range of effects that can occur in individuals whose mothers drank alcohol during pregnancy, including physical, mental, behavioral, and learning disabilities. FASD is the leading preventable cause of mental retardation and birth defects in the United States, affecting an estimated 1 in 100 live births annually. The document outlines the various effects of prenatal alcohol exposure such as growth deficiency, facial features, neurological damage, structural abnormalities, motor skills delays, cognitive deficits, and attention problems. It emphasizes that FASD is completely preventable by avoiding alcohol during pregnancy.
Angelman syndrome presentation By Angel Pantoja
Angelman Syndrome is a neuro-genetic disorder characterized by severe intellectual and developmental disability, seizures, jerky movements, frequent laughter or smiling, and usually a happy attitude. It is caused by deletion or corruption of a gene on chromosome 15 inherited from the mother. There is no standard treatment but therapy exists to treat behavioral issues and new drugs help control neurological and movement symptoms, while research studies folic acid and betaine.
Other mood disorders, unit 8
This document discusses different postpartum mood disorders including postpartum blues, postpartum depression, and postpartum psychosis. Postpartum blues typically begins 2-3 days after delivery and resolves within 2 weeks, while postpartum depression symptoms may occur within the first year. Postpartum psychosis is a medical emergency characterized by depression, delusions, and thoughts of harming oneself or the infant. Treatment involves medication, counseling, and in severe cases, hospitalization and ECT.
Shaken baby syndrome
As nurses, we play an important role in educating parents about shaken baby syndrome and how to prevent it. Shaken baby syndrome occurs when an infant's head rapidly moves back and forth, causing brain damage. It can result in serious injuries like blindness, cerebral palsy, or even death. Nurses should teach parents healthy ways to soothe a crying baby such as feeding, changing, or going for a walk instead of shaking them.
Angelman Syndrome: Kelsey Blackburn
Angelman syndrome is a genetic disorder characterized by developmental delay, neurological problems, and other symptoms like hyperactivity, seizures, sleep issues, frequent smiling and laughter, speech impairments, and balance problems. It is caused by absence of a gene inherited from the mother or inheritance of both copies of chromosome 15 from the father. While there is no cure, therapies can help manage symptoms. It is estimated about 1,000 cases occur annually in the US and Canada.
phenylketonuria
Phenylketonuria (PKU) is a genetic disorder that causes the buildup of phenylalanine in the body due to the lack of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down phenylalanine from the diet. The buildup of phenylalanine can lead to intellectual disability if not treated through a low-protein diet. PKU results from mutations in the PAH gene which provides instructions for making the phenylalanine hydroxylase enzyme. The disorder was first discovered in 1934 and can now be diagnosed through newborn screening to help prevent complications through early treatment.
Phenylketonuria Alkaptonuria Albinism
This document discusses the molecular basis of three genetic diseases: phenylketonuria (PKU), alkaptonuria, and albinism. PKU is caused by a defect in the enzyme phenylalanine hydroxylase, leading to increased phenylalanine levels and potential mental retardation if left untreated. Alkaptonuria is caused by a defect in homogentisate 1,2-dioxygenase, causing a buildup of homogentisic acid and darkening of connective tissues over time. Albinism is caused by defects in enzymes involved in melanin production, resulting in little to no pigmentation in hair, skin, and eyes.
Phenylketonuria
Phenylketonuria (PKU) is a rare genetic disorder caused by a mutation in the PAH gene that results in a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down the amino acid phenylalanine, which accumulates and causes neurological damage if left untreated. PKU is typically diagnosed via newborn screening and can be successfully managed through a lifelong low-phenylalanine diet and supplements to prevent intellectual disability and other serious issues. Untreated PKU leads to neurological problems, but early diagnosis and strict dietary control allows patients to live healthy lives.
Genetic mutations project
PKU is a genetic mutation where the body lacks the enzyme phenylalanine hydroxylase needed to break down the amino acid phenylalanine. When phenylalanine builds up in the blood, it damages the brain and nervous system, potentially causing intellectual disabilities, behavioral issues, and other health problems. It is treated through a lifelong low-phenylalanine diet to prevent toxic buildup. PKU affects approximately 1 in 10,000-15,000 newborns. It is diagnosed through newborn screening and managed through dietary control.
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Phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. A birth defect that causes an amino acid called phenylalanine to build up in the body.
Newborns should be screened for PKU.
Untreated phenylketonuria can lead to brain damage, intellectual disabilities, behavioural symptoms or seizures.
Treatment includes a strict diet with limited protein.
Phenylketonuria
Phenylketonuria is a genetic disease caused by the absence of the enzyme phenylalanine hydroxylase, which is needed to metabolize the amino acid phenylalanine. This results in an accumulation of phenylalanine in the blood and urine. If left untreated, it can cause intellectual disability and brain damage in infants. Treatment involves a lifelong low-protein diet supplemented by medical foods to restrict phenylalanine intake. Strict dietary management and monitoring by a medical team is needed to prevent complications and achieve normal development.
Phenylketonuria
Phenylketonuria (PKU) is an inherited metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH), which is responsible for breaking down the amino acid phenylalanine. Without proper treatment, toxic levels of phenylalanine can accumulate in the body and cause permanent brain damage. The document discusses PKU genetics, symptoms, statistics on rates around the world, treatment through a phenylalanine-restricted diet, and implications for pregnancy. Recent advances have improved treatment and outcomes for those with PKU.
Aminoaciduria phenylketonuria
Phenylketonuria is one of fthe inborn error of metabolism. Its characteristically error in amino acid metabolism. This causes aminoaciduria. Phenylalanine is an amino acid requied for protein synthesis as well as synthesis of tyrosine. Deficiency of the enzyme phenylalanine hyydroxylase triggers the accumulation of phenylalanine in the blood and subsequent conversion and transamination to ohenylpyruvate which is a phenylketone. This causes accumulation of phenylketones in urine with characteristicc mousy smell.
This slide discussess the causes and biochemistry of this error.
Phenylketonuria PKU - Inborn error metabolism
The slides gives you a complete information on the inborn error metabolic disease Phenylketonuria (PKU) its cause, symptoms, mechanism and dietary management.
Fetal alcohol syndrome
presentation on fetal alcohol syndrome. thousands of infants are effected by this condition all around the world. its causes and effects. nutrition to deal with this condition.
Phenylketonuria ( PKU) - Dr Padmesh
This document discusses phenylketonuria (PKU), a genetic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase. This enzyme is needed to break down the amino acid phenylalanine. Without it, phenylalanine builds up to high levels in the blood and brain, which can cause intellectual disability if not treated early. The document outlines the causes, symptoms, diagnosis through newborn screening, and lifelong treatment through a phenylalanine-restricted diet for PKU patients. It also discusses milder forms that do not require dietary treatment and the rare cases caused by a deficiency in the cofactor tetrahydrobiopterin.
Phenylketonuria
This is a presentation of PKU case and genetic counseling. Presented on April 2010 in Genetic Counseling master programme, FMDU, Semarang
angelmansyndrome
Angelman Syndrome is a genetic disorder characterized by developmental delay, neurological problems, frequent laughter and smiling, and absence of speech. It is caused by the absence or deletion of the UBE3A gene on chromosome 15, which regulates a protein important for neural development. While there is no known cure, early diagnosis and therapies can help improve quality of life by managing symptoms like seizures, providing physical and communication support.
Fetal Alcohol Syndrome
FETAL ALCOHOL SYNDROME (FAS) is the leading known cause of mental retardation
and birth defects in the world. Fetal alcohol syndrome is a pattern of physical, behavioral and
cognitive abnormalities seen in individuals exposed to alcohol in uterus. Because alcohol is a
known teratogen and the damage done to a fetus by alcohol exposure is permanent, public
education about the dangers of prenatal alcohol exposure has been extensive. Many of the
features of the fetal alcohol syndrome are secondary to the effect of alcohol on brain
development. These include microcephaly, short palpebral fissures, the long smooth philtrum
and thin vermilion of the upper lip, joint anomalies, altered palmar crease pattern, and mental
retardation. Animal studies as well as a limited amount of human data also show that
maternal genotype is a key player : Advances in the development of novel antioxidant
therapies as an approach for fetal alcohol syndrome prevention. Peptides NAPVSIPQ (NAP)
and SALLRSIPA (SAL), related to activity-dependent neuroprotective protein (ADNP),
prevent alcohol-induced damage in a mouse model of FAS. In a recent study, the thyroxin
reversed the deficit both in the level of their genes and their social behaviour, research is
going on how the prenatal thyroid hormone supplementation reverses the behavioural deficits
in the fetal alcohol spectrum disorder model. Another study used a priori approach to assess
molecular phenotype in the cranial neural folds (head fold) of early mouse embryos soon
after maternal alcohol treatment. FAS can be modulated pharmacologically with PK11195, a
potent ligand with specific binding to the mitochondrial peripheral-type benzodiazepine
receptor recognition site. PK11195 has been shown to protect early mouse embryos from eye
and brain defects induced with diverse teratogens and to protect adult tissues from some
inflammatory lesions. Microarray transcript profiling of the embryonic head fold at 3.0 hr
after alcohol exposure or PK11195 counter-exposure enabled prioritization of candidate
pathways that integrate the genomic response with genetic susceptibility of the system. These
findings are consistent with the growing view that developmental exposure to alcohol alters
common signalling pathways linking receptor activation to cytoskeletal reorganization. The
programmatic shift in cell motility and metabolic capacity further implies cell signals and
responses that are integrated by the mitochondrial recognition site for PK11195.
CONCLUSIONS: Until the advent of effective prevention measures, it will remain
necessary to seek ways to treat the life-long neurobehavioral consequences of prenatal
alcohol exposure. Nevertheless, alcohol is a widely accepted and legal social drug, and many
pregnant mothers continue to drink it while pregnant. Whereas, FAS is totally preventable by
avoiding alco
Effects of Drug Use on Infants
Several factors are common among female substance abusers including a history of abuse and mental illness. Pregnant women who abuse substances are more likely to experience domestic violence and their children often face developmental issues. Prenatal exposure to substances like opioids, cocaine, marijuana, alcohol, and tobacco can lead to low birth weight, birth defects, developmental delays, withdrawal symptoms, and behavioral problems. While not all exposed children are negatively impacted, the home environment plays a key role in development. Healthcare providers should assess home situations and provide supportive services to families affected by substance abuse.
phenylketonuria
PKU is an autosomal recessive genetic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase. This enzyme is necessary to break down the amino acid phenylalanine. Without it, phenylalanine builds up to toxic levels in the blood and brain, which can lead to intellectual disabilities if left untreated. PKU is typically detected via newborn screening and treated through a lifelong low-phenylalanine diet. Some cases may also be managed through medication. Strict dietary control is necessary before and during pregnancy for women with PKU to prevent complications in their babies.
Shaken Baby Syndrome: A Comprehensive Review of Manifestation, Diagnosis, Man...
IOSR Journal of Nursing and health Science is ambitious to disseminate information and experience in education, practice and investigation between medicine, nursing and all the sciences involved in health care.
Nursing & Health Sciences focuses on the international exchange of knowledge in nursing and health sciences. The journal publishes peer-reviewed papers on original research, education and clinical practice.
By encouraging scholars from around the world to share their knowledge and expertise, the journal aims to provide the reader with a deeper understanding of the lived experience of nursing and health sciences and the opportunity to enrich their own area of practice
Fetal Alcohol Spectrum Disorder
Fetal Alcohol Spectrum Disorder (FASD) is an umbrella term describing the range of effects that can occur in individuals whose mothers drank alcohol during pregnancy, including physical, mental, behavioral, and learning disabilities. FASD is the leading preventable cause of mental retardation and birth defects in the United States, affecting an estimated 1 in 100 live births annually. The document outlines the various effects of prenatal alcohol exposure such as growth deficiency, facial features, neurological damage, structural abnormalities, motor skills delays, cognitive deficits, and attention problems. It emphasizes that FASD is completely preventable by avoiding alcohol during pregnancy.
Angelman syndrome presentation By Angel Pantoja
Angelman Syndrome is a neuro-genetic disorder characterized by severe intellectual and developmental disability, seizures, jerky movements, frequent laughter or smiling, and usually a happy attitude. It is caused by deletion or corruption of a gene on chromosome 15 inherited from the mother. There is no standard treatment but therapy exists to treat behavioral issues and new drugs help control neurological and movement symptoms, while research studies folic acid and betaine.
Other mood disorders, unit 8
This document discusses different postpartum mood disorders including postpartum blues, postpartum depression, and postpartum psychosis. Postpartum blues typically begins 2-3 days after delivery and resolves within 2 weeks, while postpartum depression symptoms may occur within the first year. Postpartum psychosis is a medical emergency characterized by depression, delusions, and thoughts of harming oneself or the infant. Treatment involves medication, counseling, and in severe cases, hospitalization and ECT.
Shaken baby syndrome
As nurses, we play an important role in educating parents about shaken baby syndrome and how to prevent it. Shaken baby syndrome occurs when an infant's head rapidly moves back and forth, causing brain damage. It can result in serious injuries like blindness, cerebral palsy, or even death. Nurses should teach parents healthy ways to soothe a crying baby such as feeding, changing, or going for a walk instead of shaking them.
Angelman Syndrome: Kelsey Blackburn
Angelman syndrome is a genetic disorder characterized by developmental delay, neurological problems, and other symptoms like hyperactivity, seizures, sleep issues, frequent smiling and laughter, speech impairments, and balance problems. It is caused by absence of a gene inherited from the mother or inheritance of both copies of chromosome 15 from the father. While there is no cure, therapies can help manage symptoms. It is estimated about 1,000 cases occur annually in the US and Canada.
phenylketonuria
Phenylketonuria (PKU) is a genetic disorder that causes the buildup of phenylalanine in the body due to the lack of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down phenylalanine from the diet. The buildup of phenylalanine can lead to intellectual disability if not treated through a low-protein diet. PKU results from mutations in the PAH gene which provides instructions for making the phenylalanine hydroxylase enzyme. The disorder was first discovered in 1934 and can now be diagnosed through newborn screening to help prevent complications through early treatment.
Phenylketonuria Alkaptonuria Albinism
This document discusses the molecular basis of three genetic diseases: phenylketonuria (PKU), alkaptonuria, and albinism. PKU is caused by a defect in the enzyme phenylalanine hydroxylase, leading to increased phenylalanine levels and potential mental retardation if left untreated. Alkaptonuria is caused by a defect in homogentisate 1,2-dioxygenase, causing a buildup of homogentisic acid and darkening of connective tissues over time. Albinism is caused by defects in enzymes involved in melanin production, resulting in little to no pigmentation in hair, skin, and eyes.
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Phenylketonuria
Phenylketonuria (PKU) is a rare genetic disorder caused by a mutation in the PAH gene that results in a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down the amino acid phenylalanine, which accumulates and causes neurological damage if left untreated. PKU is typically diagnosed via newborn screening and can be successfully managed through a lifelong low-phenylalanine diet and supplements to prevent intellectual disability and other serious issues. Untreated PKU leads to neurological problems, but early diagnosis and strict dietary control allows patients to live healthy lives.
Genetic mutations project
PKU is a genetic mutation where the body lacks the enzyme phenylalanine hydroxylase needed to break down the amino acid phenylalanine. When phenylalanine builds up in the blood, it damages the brain and nervous system, potentially causing intellectual disabilities, behavioral issues, and other health problems. It is treated through a lifelong low-phenylalanine diet to prevent toxic buildup. PKU affects approximately 1 in 10,000-15,000 newborns. It is diagnosed through newborn screening and managed through dietary control.
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The document discusses Phenylketonuria (PKU) and congenital hypothyroidism. PKU is an inherited disorder that prevents the breakdown of phenylalanine. It can cause intellectual disabilities if not treated through a phenylalanine-restricted diet. Congenital hypothyroidism is caused by thyroid gland issues present at birth and can lead to developmental delays without thyroid hormone treatment. Both conditions are screened for at birth through blood tests and require lifelong management through specialized diets or thyroid hormone supplementation.
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Phenylketonuria (PKU) is a rare genetic disorder that prevents the breakdown of the essential amino acid phenylalanine. Left untreated, high phenylalanine levels can lead to intellectual disabilities, seizures, behavioral problems, and other issues. The document discusses the discovery of PKU, the genetics and causes, signs and symptoms, testing methods, and importance of treatment including a lifelong low-protein diet with phenylalanine-free medical food to prevent complications. Pregnancy requires especially strict dietary control to avoid problems in the developing fetus such as intellectual disabilities or birth defects.
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Phenylketonuria (PKU) is an inherited disorder that causes the body to be unable to break down an amino acid called phenylalanine. If left untreated, it can cause intellectual disabilities and other neurological problems. There are different types of PKU depending on severity. It is caused by mutations that impact the phenylalanine hydroxylase enzyme needed to metabolize phenylalanine. Symptoms usually appear between 3-6 months of age if untreated. Diagnosis involves newborn blood tests and managing PKU involves a lifelong low-phenylalanine diet to control symptoms and prevent complications.
Factors Affecting Development Report.pptx
The document discusses various factors that influence maternal weight gain and fetal development during pregnancy and lactation. It notes that adequate nutrition and avoiding harmful substances is important for a healthy pregnancy. Specifically, it recommends getting sufficient calories, protein, iron and B vitamins. It warns against smoking, drugs, alcohol, radiation and other environmental toxins. It also outlines important reflexes and senses that newborns possess and how they develop in the first months after birth.
Aminoaciduria and organic aciduria in neurology
aminoaciduria and organic aciduria are considered as important disorder in the group of inborn error of metabolism.
Case Study for BIOC 460 by Courtney Dubbels
The doctor examined a 4-month old infant brought to the emergency room after having a seizure. The infant also had a rash and odd odor. Further examination revealed an abnormally small head and fair skin. The doctor diagnosed the infant with phenylketonuria (PKU), a genetic disorder that prevents breaking down the amino acid phenylalanine, causing neurological problems if not treated through a specialized diet limiting high-protein foods. Testing confirmed high phenylalanine levels in the infant's blood and urine, supporting the PKU diagnosis.
psychological disorders during puerperium.pptx
This document discusses various psychological complications that can occur during the postpartum period, including postpartum blues, postpartum depression, and postpartum psychosis. It provides information on the definition, incidence, risk factors, symptoms, diagnosis, and management of each condition. Postpartum blues is mild and temporary, affecting nearly 50% of new mothers. Postpartum depression is more severe and long-lasting, impacting 10-20% of women. Postpartum psychosis is the most serious condition, occurring in 1 in 500-1000 births, requiring immediate medical attention. Early identification and treatment is important for all conditions to help new mothers recover and care for their infants.
Phenylketonuria Ppt
Phenylketonuria (PKU) is a genetic disorder caused by a mutation that prevents the breakdown of phenylalanine. This allows phenylalanine levels to accumulate in the blood and brain, which can cause intellectual disabilities if left untreated. The condition is usually diagnosed via newborn screening, which tests for high phenylalanine levels. Treatment requires a lifelong low-phenylalanine diet to prevent cognitive issues and other health problems associated with elevated phenylalanine. Strict dietary control is necessary to manage PKU and avoid complications.
Post Partum Disorders [2001]
This document discusses post partum disorders including diagnosis and treatment issues. It describes three main categories of post partum psychiatric states: postpartum blues, postnatal depression, and puerperal psychosis. Postpartum blues is the most common, affecting up to 70% of women, featuring transient anxiety, depression and confusion peaking at days 4-5. Postnatal depression peaks at 4-6 weeks in 10-15% of women, featuring classic depression symptoms. Puerperal psychosis is the most severe, occurring in 1-2 per 1000 births, usually beginning in the first week with features of mania, insomnia, and mood lability endangering mother and baby. Early identification of postnatal
Cerebral Palsy 1.pptx
This document provides an overview of cerebral palsy, including its definition, epidemiology, risk factors, classifications, complications, clinical effects, and functional prognosis. Cerebral palsy is defined as a non-progressive brain injury resulting in impaired movement and posture. It occurs in approximately 1-2.3 per 1000 live births. Risk factors include preterm birth, low birth weight, maternal health issues, and complications during gestation or delivery. Cerebral palsy is classified based on physiology, topography of affected limbs, and functional ability. Complications can include spasticity, weakness, seizures, and orthopedic issues. The prognosis depends on motor development milestones, with earlier sitting and walking generally indicating
PostPartum PSYCHIATRIC DISORDERS-OT
This document provides an overview of postpartum psychiatric disorders. It discusses the biological and psychological changes that occur after childbirth that can increase risks of mental illness. Common disorders include postpartum blues, postpartum depression, postpartum psychosis, and mother-infant relationship disorders. Diagnosis can be challenging and these disorders can seriously impact both mother and child if not properly treated. The document examines assessment tools, treatment guidelines, and the importance of prevention and early intervention.
Postpartum depression
PPD is similar to clinical depression.it is not only prevalent among women but also in men. sufferers are not alone and they can prevent this by talk, talk and talk.
postpartumdepression is a ver y common disorders-170424094316.pdf
This document provides an overview of postnatal depression. It defines postnatal depression as a type of clinical depression that can affect both sexes after childbirth, with symptoms including sadness, low energy, changes in sleeping and eating patterns. Around 1 in 10 women experience postnatal depression within a year of giving birth. Risk factors include a personal or family history of depression, prenatal depression or anxiety, and life stress. Hormonal changes after childbirth as well as lifestyle and relationship factors may contribute to the causes. Screening tools can help diagnose postnatal depression, which has similar diagnostic criteria to other forms of major depression.
Fetal alcohol syndrome treatment2
The document discusses fetal alcohol spectrum disorders which can result from drinking alcohol during pregnancy. It describes the range of effects from mild intellectual disabilities or learning problems to severe birth defects. Early intervention services can help address some effects by providing therapies, medical care, and life skills training. Treatment focuses on managing symptoms but there is no cure for the physical and mental issues caused by prenatal alcohol exposure.
Apparent Life-Threatening Events
This document provides guidance on the evaluation and management of apparent life-threatening events (ALTEs) in infants. It defines ALTEs and describes common underlying causes. Key points include:
1. ALTEs are frightening events in infants involving changes in breathing, color, muscle tone or consciousness. Common causes include gastroesophageal reflux, seizures and infections.
2. Infants presenting with ALTE should be evaluated for risk factors like prematurity, recurrent events or suspected abuse which warrant further testing and hospital admission.
3. For low-risk infants, targeted testing based on history and exam is recommended. If uncertainty remains, admission for observation is advised over discharge to ensure infant safety.
Chediak higashi syndrome, Phenylketonuria, Dentinogenesis Imperfecta
Chédiak-Higashi syndrome is a rare autosomal recessive disorder caused by mutations in the LYST gene. This results in abnormal granules in skin and immune cells, leading to partial albinism, infections, and neuropathy. Without treatment, an accelerated phase can develop with fever, bleeding, infections and organ failure. Diagnosis involves observing giant granules in leukocytes. There is no cure, but bone marrow transplants have been successful in some cases.
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postpartumdepression is a ver y common disorders-170424094316.pdf
postpartumdepression is a ver y common disorders-170424094316.pdf
Chediak higashi syndrome, Phenylketonuria, Dentinogenesis Imperfecta
Chediak higashi syndrome, Phenylketonuria, Dentinogenesis Imperfecta
Jessssss
- 1. PKU symptoms Phenylketonuria is a disorder that increases the levels of a substance called phenylalanine in the blood. When infants have PKU will appear healthy and no signs until they area few months old. If not treated from the beginning of the disease the children will develop permanent intellectual disability. If a pregnant woman has PKU and untreated the babies born will have a risk of also intellectual disabilities because of high levels of phenylalanine before birth.
- 2. SIGNS Some children may also have low birth weight and growth rate. Some cases have symptoms of behavioral problems. Different moods, psychiatric disorders and seizures are also common. There has been various cases with some woman with PKU uncontrolled have and increased risk of pregnancy loss. Patients with mild cases of PKU may not require any treatment of low diet phenylalanine. Yet the untreated individuals with a greater case may have musty order as a side effect of excess phenylalanine in the body. Some signs may result in mental retardation, organ damage, or unusual postures.
- 3. PKU makes people have lower levels of melanin which is the substance that gives color to hair and skin. So children result mostly in pale skin, light eyes, light hair, dry skin, and urine problems.