Glucose 6 Phosphate Dehydrogenase Deficiency
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Glucose-6-Phosphate Dehydrogenase Deficiency is an X-linked recessive disorder commonly seen in American black men that causes episodic hemolysis or breakdown of red blood cells in response to oxidant drugs or infections due to a deficiency in the G6PD enzyme. Between episodes, blood tests show reduced levels of G6PD and minimally abnormal results. Oxidized hemoglobin causes damage to red blood cell membranes, forming Heinz bodies that are removed by the spleen.
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Khan arbaz ali
knowledge is freedom . knowledge is last hope for humanity . man is still survive on earth with several new modification due to only knowledge .
G6PD Deficiency
G6PD deficiency is an X-linked genetic condition characterized by low levels of the enzyme glucose-6-phosphate dehydrogenase, which helps maintain red blood cell health. People with G6PD deficiency are prone to hemolytic anemia during times of oxidative stress, such as certain infections, foods like fava beans, drugs, and chemicals. The condition is most common in people from the Mediterranean and Africa and provides some protection against malaria.
G6 pd dificiency_anemia_new
This document summarizes information about glucose-6-phosphate dehydrogenase (G6PD) deficiency. It discusses how G6PD is important for generating NADPH and reducing power in red blood cells. G6PD deficiency results in oxidative damage and hemolysis of red blood cells due to a lack of reducing equivalents. Clinical manifestations range from asymptomatic to acute hemolytic anemia triggered by oxidative drugs, infections, or fava beans. Diagnosis involves screening tests to detect low G6PD enzyme activity in red blood cells.
G6pd Asst Prof.Dr.Faiz Ahmed Faiz
1. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disease and the most common enzyme-related hemolytic anemia.
2. G6PD deficiency results in increased breakdown of red blood cells due to oxidative damage when patients are exposed to certain drugs, infections, or fava beans.
3. The biochemical basis is that G6PD is needed to produce NADPH, which protects red blood cells from oxidative damage - without this protection, red blood cells rupture and hemolytic anemia occurs.
G6PD deficiency.ppt
UAEU - CMHS - Hematology-Oncology Course - MMH 302 - HONC 320. Education material for medical students - It cover basic principles of hematology and oncology, including CAR-T and gene editing. It can be used for study and review. It illustrates main principles of hematology and oncology.
G6pd deficiency
G6PD deficiency is a defect in the G6PD enzyme, which provides protection against oxidative stress in red blood cells. It is an X-linked inherited condition, though female heterozygotes have some protection against malaria. Those with G6PD deficiency experience hemolytic anemia during times of oxidative stress caused by factors like infections, medications, or foods like fava beans. The deficiency results in inadequate levels of NADPH and glutathione, leaving red blood cells vulnerable to damage and hemolysis. Symptoms of the acute hemolytic anemia appear 24-48 hours after exposure to the triggering agent. Laboratory tests show signs of hemolysis and low G6PD enzyme activity. There is no cure or treatment other than
G6 Pd Deficiency
G6PD deficiency is a common enzyme deficiency affecting approximately 400 million people worldwide. It is caused by mutations in the G6PD gene located on the X chromosome, making males more likely to be affected. G6PD deficiency results in hemolytic anemia when red blood cells are exposed to oxidative agents found in certain drugs or foods like fava beans. A complete blood count or screening test can diagnose G6PD deficiency by measuring enzyme activity levels in the blood. Current treatment involves avoiding triggers like fava beans and oxidative drugs that can cause hemolysis in G6PD deficient individuals.
Glucose 6 Phosphate Dehydrogenase Deficiency G6PD
This document outlines the key points from a presentation on glucose-6-phosphate dehydrogenase (G6PD) deficiency. It begins with background information on G6PD and its function in protecting red blood cells from oxidative damage. It then discusses the epidemiology of G6PD deficiency and its association with reduced risk of severe malaria in endemic areas, particularly in African children. The document presents results from a case-control study in Mali finding that G6PD deficiency protects hemizygous males against severe malaria but does not protect heterozygous females.
Recommended
Khan arbaz ali
knowledge is freedom . knowledge is last hope for humanity . man is still survive on earth with several new modification due to only knowledge .
G6PD Deficiency
G6PD deficiency is an X-linked genetic condition characterized by low levels of the enzyme glucose-6-phosphate dehydrogenase, which helps maintain red blood cell health. People with G6PD deficiency are prone to hemolytic anemia during times of oxidative stress, such as certain infections, foods like fava beans, drugs, and chemicals. The condition is most common in people from the Mediterranean and Africa and provides some protection against malaria.
G6 pd dificiency_anemia_new
This document summarizes information about glucose-6-phosphate dehydrogenase (G6PD) deficiency. It discusses how G6PD is important for generating NADPH and reducing power in red blood cells. G6PD deficiency results in oxidative damage and hemolysis of red blood cells due to a lack of reducing equivalents. Clinical manifestations range from asymptomatic to acute hemolytic anemia triggered by oxidative drugs, infections, or fava beans. Diagnosis involves screening tests to detect low G6PD enzyme activity in red blood cells.
G6pd Asst Prof.Dr.Faiz Ahmed Faiz
1. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disease and the most common enzyme-related hemolytic anemia.
2. G6PD deficiency results in increased breakdown of red blood cells due to oxidative damage when patients are exposed to certain drugs, infections, or fava beans.
3. The biochemical basis is that G6PD is needed to produce NADPH, which protects red blood cells from oxidative damage - without this protection, red blood cells rupture and hemolytic anemia occurs.
G6PD deficiency.ppt
UAEU - CMHS - Hematology-Oncology Course - MMH 302 - HONC 320. Education material for medical students - It cover basic principles of hematology and oncology, including CAR-T and gene editing. It can be used for study and review. It illustrates main principles of hematology and oncology.
G6pd deficiency
G6PD deficiency is a defect in the G6PD enzyme, which provides protection against oxidative stress in red blood cells. It is an X-linked inherited condition, though female heterozygotes have some protection against malaria. Those with G6PD deficiency experience hemolytic anemia during times of oxidative stress caused by factors like infections, medications, or foods like fava beans. The deficiency results in inadequate levels of NADPH and glutathione, leaving red blood cells vulnerable to damage and hemolysis. Symptoms of the acute hemolytic anemia appear 24-48 hours after exposure to the triggering agent. Laboratory tests show signs of hemolysis and low G6PD enzyme activity. There is no cure or treatment other than
G6 Pd Deficiency
G6PD deficiency is a common enzyme deficiency affecting approximately 400 million people worldwide. It is caused by mutations in the G6PD gene located on the X chromosome, making males more likely to be affected. G6PD deficiency results in hemolytic anemia when red blood cells are exposed to oxidative agents found in certain drugs or foods like fava beans. A complete blood count or screening test can diagnose G6PD deficiency by measuring enzyme activity levels in the blood. Current treatment involves avoiding triggers like fava beans and oxidative drugs that can cause hemolysis in G6PD deficient individuals.
Glucose 6 Phosphate Dehydrogenase Deficiency G6PD
This document outlines the key points from a presentation on glucose-6-phosphate dehydrogenase (G6PD) deficiency. It begins with background information on G6PD and its function in protecting red blood cells from oxidative damage. It then discusses the epidemiology of G6PD deficiency and its association with reduced risk of severe malaria in endemic areas, particularly in African children. The document presents results from a case-control study in Mali finding that G6PD deficiency protects hemizygous males against severe malaria but does not protect heterozygous females.
G6pd
1. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency in humans, affecting over 200 million people worldwide.
2. G6PD deficiency results from mutations in the G6PD gene and causes decreased production of NADPH, leading to hemolytic anemia in response to oxidative stress.
3. Diagnosis is made through tests that measure G6PD enzyme activity levels in red blood cells, with deficiency diagnosed if levels are significantly decreased. Management focuses on avoiding triggers that cause hemolysis and blood transfusions in acute cases.
03 g6 pd deficiency
This document discusses glucose-6-phosphate dehydrogenase (G6PD) deficiency anemia. It begins by explaining the pentose phosphate pathway and role of G6PD in producing the reducing agent NADPH. G6PD deficiency causes oxidative stress in red blood cells due to lack of NADPH, leading to hemolysis. Several factors can precipitate a hemolytic episode in G6PD deficient individuals, such as infections or ingestion of oxidizing drugs or fava beans. There are different classes of G6PD deficiency variants based on enzymatic stability and severity. Diagnosis involves blood tests to detect low G6PD enzymatic activity and identify genetic mutations.
Glucose 6-phosphate dehydrogenase deficiency
G6PDD is an inherited genetic disorder in the red blood cell enzyme known as G6PD. The effects of this disease are preventable by avoiding the triggers.
G6PD deficiency and malaria
G6PD deficiency provides some protection against severe malaria. G6PD is an enzyme involved in red blood cell metabolism that protects against oxidative stress. G6PD deficiency is more common in populations where malaria is endemic. While G6PD deficiency may reduce the severity of malaria infections, it can also cause hemolysis if patients receive certain antimalarial treatments like primaquine or dapsone without first being screened for G6PD deficiency status. Proper screening is important to avoid potentially life-threatening hemolysis in G6PD deficient patients being treated for malaria.
G6PD Deficiency Anaemai
- Individuals with G6PD deficiency do not show symptoms until exposed to oxidative stress, such as certain foods or medicines.
- G6PD is responsible for producing NADPH, which generates glutathione to protect red blood cells from damage by free radicals. In G6PD deficiency, insufficient NADPH leads to hemolysis upon exposure to oxidative stress.
- Diagnosis involves testing for G6PD enzyme activity levels, which are reduced in deficiency. Exposure to oxidative triggers can cause a hemolytic crisis characterized by dark urine and jaundice.
Glucose 6-phosphate dehydrogenase deficiency
This document summarizes information about glucose-6-phosphate dehydrogenase (G6PD) deficiency. It is an X-linked genetic disorder characterized by low levels of the G6PD enzyme. This enzyme protects red blood cells from oxidative damage. Those with the deficiency are at risk for hemolytic anemia when exposed to triggers like infections, certain foods or medications. Symptoms can include jaundice and fatigue. The deficiency provides some protection against malaria and is most common in those of African and Mediterranean descent. Management involves avoiding triggers and treating infections promptly.
G6PD DEFICIENCY
G6PD deficiency is a genetic disorder classified into 5 classes based on enzyme activity level, ranging from severe deficiency with less than 10% activity to increased enzyme activity. Management involves avoiding oxidative stressors that can trigger hemolysis like fava beans, certain drugs, and chemicals. For acute hemolysis episodes, treatment may include blood transfusions. The main approach is preventing oxidative stressors that can cause red blood cell breakdown in those with the condition.
G6PD glucose 6 phosphate dehydrogens deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder characterized by low levels of the G6PD enzyme. G6PD is involved in processing carbohydrates and protecting red blood cells from oxidative damage. Those with G6PD deficiency are at risk of hemolytic anemia when exposed to certain drugs and foods that cause oxidative stress. The deficiency has different classes of severity based on residual enzyme activity. Diagnosis involves testing for G6PD enzymatic activity and identifying gene mutations. Treatment focuses on managing anemia, while prevention involves avoiding triggers like certain drugs. The condition has a global distribution and mainly affects red blood cells.
G6PD deficiency
Discussion regarding Glucose 6 phosphate dehydrogenase deficiency and the genetics involved in inheritance of disease. The possible treatment options and mutations identified so far has also been discussed.
G6 Pd Presentation
Tafenoquine is a novel antimalarial drug being developed as a preventative treatment for malaria. It is in the same class as primaquine but is less toxic and longer acting, requiring only weekly dosing compared to primaquine's daily dosing. For patients with G6PD deficiency, an enzyme deficiency affecting 400 million people worldwide, tafenoquine's safety is still being evaluated as antimalarials in this class can cause hemolysis or breaking apart of red blood cells. The latest research indicates the parent compounds rather than metabolites may be responsible for toxicity, and further studies will explore tafenoquine's hemolytic effects in G6PD deficient patients.
practical points for G6PD Deficiency , Favism
This document provides information on G6PD deficiency and favism. It describes a case of a 3-year old boy presenting with pallor, red urine, and abdominal pain, which are signs of hemolytic anemia. It then discusses the characteristics of hemolytic anemia and explains that G6PD deficiency is a genetic disorder where individuals are at risk of hemolytic anemia when consuming fava beans or certain drugs due to inadequate NADPH production and antioxidant effects in red blood cells. The document concludes with treatment recommendations of blood transfusions and avoiding triggers like fava beans, certain medications, infections, and chemicals for people with G6PD deficiency.
G6pd
Dr. S. Ismat Bukhari's document discusses G6PD deficiency, the most common enzyme deficiency worldwide. It affects over 200 million individuals, predominantly in areas like the Middle East, Africa, and Asia. G6PD deficiency is caused by mutations in the G6PD gene and results in inadequate protection of red blood cells from oxidative stress. This can lead to hemolysis, jaundice, and anemia, especially after exposure to oxidizing drugs or foods. The document outlines the inheritance, clinical manifestations, treatment, and screening of G6PD deficiency.
G6pd
This document provides information about glucose-6-phosphate dehydrogenase (G6PD) deficiency. It discusses the discovery and function of the G6PD enzyme, describes how mutations in the G6PD gene cause the deficiency, outlines its inheritance as an X-linked recessive trait, and summarizes the clinical manifestations including favism and hemolytic anemia. It also covers diagnosis, classification of variants, frequency in different populations, and treatment approaches for acute hemolysis episodes.
NEONATAL G-6PD DEFICIENCY
This document discusses neonatal G6PD deficiency, including its epidemiology, pathogenesis, clinical presentation, diagnosis, and management. It notes that G6PD deficiency is one of the most common enzymopathies worldwide and an important cause of neonatal jaundice. The deficiency results in impaired antioxidant defense in red blood cells and can lead to hemolysis when exposed to oxidative stress. Timely diagnosis and avoiding triggering factors are important to prevent severe complications like kernicterus. Newborn screening programs have helped identify at-risk infants.
ERYTHROCYTIC PYRUVATE KINASE DEFICIENCY: HAEMATOLOGICAL IMPLICATIONS
Pyruvate kinase is a key glycolytic enzyme that catalyses the transphosphorylation of phosphoenolpyruvate to adenosine diphosphate (ADP), yielding pyruvate and adenosine triphosphate (ATP). Red cell longevity is dependent on the ATP produced in glycolysis, Erythrocytic pyruvate kinase is a form of pyruvate kinase found in the red blood cells. Its defficiency is detrimental to the integrity of the red cell membrane, hence rendering it vulnerable for haemolytic action.
G6PD Deficiency in Malaysia: the current situation - Narazah Mohd Yusoff
The document discusses G6PD deficiency in Malaysia. It finds the prevalence is highest in Orang Asli (indigenous people) males at 11% and females at 7%. Nationwide neonatal screening began in 1980 and molecular studies found the most common mutations were Viangchan (871G>A) and Mahidol (487G>A). While diagnosis and treatment services exist, challenges remain in improving genetic counseling, establishing databases, and increasing international collaboration on research regarding pathogenesis and protective mechanisms against malaria.
Endocrine complications in Thalassemia major
This document discusses various endocrine complications that can occur in patients with thalassemia major, including growth retardation, delayed puberty, hypogonadism, hypothyroidism, impaired carbohydrate metabolism, and osteoporosis. It provides details on the pathophysiology, investigations, and treatment for each complication. Growth retardation is common due to chronic anemia, iron overload, and chelation toxicity. Delayed puberty and hypogonadism can occur if pubertal development is not complete by ages 13-14. Hypothyroidism ranges from subclinical to overt. Impaired carbohydrate metabolism resembles type 2 diabetes and is treated with diet, insulin or oral hypoglycemic agents. Hypop
The Types and Symptoms of Congenital Adrenal Hyperplasia
Based in New Jersey, James Raphalian is a retired finance industry executive who served as senior managing director with Schwab Capital Markets. Reflecting a strong community involvement, James Raphalian has spearheaded a fundraiser for the Congenital Adrenal Hyperplasia Research Education and Support (CARES) Foundation and provides the nonprofit with ongoing financial advice.
Congenital adrenal hyperplasia (CAH) is a grouping of inherited, autosomal recessive disorders involving mutations in the adrenal glands and resulting in high male hormone levels and low cortisol levels. There are two basic types of CAH, with the most common “classic CAH” related to 21-hydroxylase deficiency and grouped into two further subtypes.
The most severe classic form is “salt-wasting CAH,” in which the adrenal glands do not produce enough aldosterone, which results in the body not retaining sufficient sodium. This condition typically occurs shortly after birth and if undiagnosed can result in death of the infant. Among the symptoms are dehydration, low blood pressure, diarrhea, and poor feeding.
Even with treatment, children with salt-wasting CAH may experience adrenal crises at times of stress or illness. For this reason, adrenal hormone medications may need to be increased at times and careful monitoring is necessary.
By contrast, non-salt wasting (simple virilizing) CAH is more moderate, with the aldosterone deficiency less severe and thus not life threatening to newborns. Nonclassic CAH also has mild 21-hydroxylase deficiency as a cause, with the symptoms typically appearing in childhood, adolescence, and the early adult years. Among the symptoms related to elevated androgens are early signs of puberty. Rapid growth may be experienced in the early teens, though the patient will be shorter than the parents at maturity.
Thalassemia and Pregnancy
This document provides information about thalassemia and pregnancy. It defines thalassemia as a genetic blood disorder characterized by reduced or absent globin chain synthesis. It discusses the types and incidence of thalassemia worldwide and in India. It outlines the approach to diagnosis including various blood tests. It covers the management of thalassemia during pregnancy including preconception care, antenatal care, intrapartum care, postpartum care and complications. The goal is to prevent the birth of children with thalassemia major through genetic counseling and screening of potential parents.
CAH and Galactosemia
CAH and galactosemia are genetic disorders. CAH is caused by a deficiency in the enzyme 21-hydroxylase, resulting in enlarged adrenal glands and excess production of male sex hormones. It can cause genital anomalies in females and salt-wasting issues. Galactosemia is caused by a deficiency in the GALT enzyme, preventing the breakdown of galactose which can lead to issues like cataracts if untreated. Both require dietary management to avoid complications.
HMP Shunt
The document summarizes key aspects of the hexose monophosphate pathway (HMP pathway or pentose phosphate pathway). It describes the pathway's location in the cytosol and key tissues where it is active. The oxidative and non-oxidative phases of the pathway and their reactions are outlined. Regulation of the pathway by NADPH concentration is mentioned. The significance of the pathway is that it generates pentoses and NADPH, which is important for biosynthesis and antioxidant reactions. Deficiencies in the pathway can cause hemolytic anemia.
Glucose 6-phosphate dehydrogenase Defeciency أنيميا الفول
يعني ايه أنيميا الفول ؟ ليه اسمها كده .. بتحصل ازاي ؟!
ايه الأكلات اللي تتجنبها ؟ ايه الأدوية اللي ممكن تعمل مشاكل لذلك النوع من المرضى ؟
كل ده in scientific details :)
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G6pd
1. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency in humans, affecting over 200 million people worldwide.
2. G6PD deficiency results from mutations in the G6PD gene and causes decreased production of NADPH, leading to hemolytic anemia in response to oxidative stress.
3. Diagnosis is made through tests that measure G6PD enzyme activity levels in red blood cells, with deficiency diagnosed if levels are significantly decreased. Management focuses on avoiding triggers that cause hemolysis and blood transfusions in acute cases.
03 g6 pd deficiency
This document discusses glucose-6-phosphate dehydrogenase (G6PD) deficiency anemia. It begins by explaining the pentose phosphate pathway and role of G6PD in producing the reducing agent NADPH. G6PD deficiency causes oxidative stress in red blood cells due to lack of NADPH, leading to hemolysis. Several factors can precipitate a hemolytic episode in G6PD deficient individuals, such as infections or ingestion of oxidizing drugs or fava beans. There are different classes of G6PD deficiency variants based on enzymatic stability and severity. Diagnosis involves blood tests to detect low G6PD enzymatic activity and identify genetic mutations.
Glucose 6-phosphate dehydrogenase deficiency
G6PDD is an inherited genetic disorder in the red blood cell enzyme known as G6PD. The effects of this disease are preventable by avoiding the triggers.
G6PD deficiency and malaria
G6PD deficiency provides some protection against severe malaria. G6PD is an enzyme involved in red blood cell metabolism that protects against oxidative stress. G6PD deficiency is more common in populations where malaria is endemic. While G6PD deficiency may reduce the severity of malaria infections, it can also cause hemolysis if patients receive certain antimalarial treatments like primaquine or dapsone without first being screened for G6PD deficiency status. Proper screening is important to avoid potentially life-threatening hemolysis in G6PD deficient patients being treated for malaria.
G6PD Deficiency Anaemai
- Individuals with G6PD deficiency do not show symptoms until exposed to oxidative stress, such as certain foods or medicines.
- G6PD is responsible for producing NADPH, which generates glutathione to protect red blood cells from damage by free radicals. In G6PD deficiency, insufficient NADPH leads to hemolysis upon exposure to oxidative stress.
- Diagnosis involves testing for G6PD enzyme activity levels, which are reduced in deficiency. Exposure to oxidative triggers can cause a hemolytic crisis characterized by dark urine and jaundice.
Glucose 6-phosphate dehydrogenase deficiency
This document summarizes information about glucose-6-phosphate dehydrogenase (G6PD) deficiency. It is an X-linked genetic disorder characterized by low levels of the G6PD enzyme. This enzyme protects red blood cells from oxidative damage. Those with the deficiency are at risk for hemolytic anemia when exposed to triggers like infections, certain foods or medications. Symptoms can include jaundice and fatigue. The deficiency provides some protection against malaria and is most common in those of African and Mediterranean descent. Management involves avoiding triggers and treating infections promptly.
G6PD DEFICIENCY
G6PD deficiency is a genetic disorder classified into 5 classes based on enzyme activity level, ranging from severe deficiency with less than 10% activity to increased enzyme activity. Management involves avoiding oxidative stressors that can trigger hemolysis like fava beans, certain drugs, and chemicals. For acute hemolysis episodes, treatment may include blood transfusions. The main approach is preventing oxidative stressors that can cause red blood cell breakdown in those with the condition.
G6PD glucose 6 phosphate dehydrogens deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder characterized by low levels of the G6PD enzyme. G6PD is involved in processing carbohydrates and protecting red blood cells from oxidative damage. Those with G6PD deficiency are at risk of hemolytic anemia when exposed to certain drugs and foods that cause oxidative stress. The deficiency has different classes of severity based on residual enzyme activity. Diagnosis involves testing for G6PD enzymatic activity and identifying gene mutations. Treatment focuses on managing anemia, while prevention involves avoiding triggers like certain drugs. The condition has a global distribution and mainly affects red blood cells.
G6PD deficiency
Discussion regarding Glucose 6 phosphate dehydrogenase deficiency and the genetics involved in inheritance of disease. The possible treatment options and mutations identified so far has also been discussed.
G6 Pd Presentation
Tafenoquine is a novel antimalarial drug being developed as a preventative treatment for malaria. It is in the same class as primaquine but is less toxic and longer acting, requiring only weekly dosing compared to primaquine's daily dosing. For patients with G6PD deficiency, an enzyme deficiency affecting 400 million people worldwide, tafenoquine's safety is still being evaluated as antimalarials in this class can cause hemolysis or breaking apart of red blood cells. The latest research indicates the parent compounds rather than metabolites may be responsible for toxicity, and further studies will explore tafenoquine's hemolytic effects in G6PD deficient patients.
practical points for G6PD Deficiency , Favism
This document provides information on G6PD deficiency and favism. It describes a case of a 3-year old boy presenting with pallor, red urine, and abdominal pain, which are signs of hemolytic anemia. It then discusses the characteristics of hemolytic anemia and explains that G6PD deficiency is a genetic disorder where individuals are at risk of hemolytic anemia when consuming fava beans or certain drugs due to inadequate NADPH production and antioxidant effects in red blood cells. The document concludes with treatment recommendations of blood transfusions and avoiding triggers like fava beans, certain medications, infections, and chemicals for people with G6PD deficiency.
G6pd
Dr. S. Ismat Bukhari's document discusses G6PD deficiency, the most common enzyme deficiency worldwide. It affects over 200 million individuals, predominantly in areas like the Middle East, Africa, and Asia. G6PD deficiency is caused by mutations in the G6PD gene and results in inadequate protection of red blood cells from oxidative stress. This can lead to hemolysis, jaundice, and anemia, especially after exposure to oxidizing drugs or foods. The document outlines the inheritance, clinical manifestations, treatment, and screening of G6PD deficiency.
G6pd
This document provides information about glucose-6-phosphate dehydrogenase (G6PD) deficiency. It discusses the discovery and function of the G6PD enzyme, describes how mutations in the G6PD gene cause the deficiency, outlines its inheritance as an X-linked recessive trait, and summarizes the clinical manifestations including favism and hemolytic anemia. It also covers diagnosis, classification of variants, frequency in different populations, and treatment approaches for acute hemolysis episodes.
NEONATAL G-6PD DEFICIENCY
This document discusses neonatal G6PD deficiency, including its epidemiology, pathogenesis, clinical presentation, diagnosis, and management. It notes that G6PD deficiency is one of the most common enzymopathies worldwide and an important cause of neonatal jaundice. The deficiency results in impaired antioxidant defense in red blood cells and can lead to hemolysis when exposed to oxidative stress. Timely diagnosis and avoiding triggering factors are important to prevent severe complications like kernicterus. Newborn screening programs have helped identify at-risk infants.
ERYTHROCYTIC PYRUVATE KINASE DEFICIENCY: HAEMATOLOGICAL IMPLICATIONS
Pyruvate kinase is a key glycolytic enzyme that catalyses the transphosphorylation of phosphoenolpyruvate to adenosine diphosphate (ADP), yielding pyruvate and adenosine triphosphate (ATP). Red cell longevity is dependent on the ATP produced in glycolysis, Erythrocytic pyruvate kinase is a form of pyruvate kinase found in the red blood cells. Its defficiency is detrimental to the integrity of the red cell membrane, hence rendering it vulnerable for haemolytic action.
G6PD Deficiency in Malaysia: the current situation - Narazah Mohd Yusoff
The document discusses G6PD deficiency in Malaysia. It finds the prevalence is highest in Orang Asli (indigenous people) males at 11% and females at 7%. Nationwide neonatal screening began in 1980 and molecular studies found the most common mutations were Viangchan (871G>A) and Mahidol (487G>A). While diagnosis and treatment services exist, challenges remain in improving genetic counseling, establishing databases, and increasing international collaboration on research regarding pathogenesis and protective mechanisms against malaria.
Endocrine complications in Thalassemia major
This document discusses various endocrine complications that can occur in patients with thalassemia major, including growth retardation, delayed puberty, hypogonadism, hypothyroidism, impaired carbohydrate metabolism, and osteoporosis. It provides details on the pathophysiology, investigations, and treatment for each complication. Growth retardation is common due to chronic anemia, iron overload, and chelation toxicity. Delayed puberty and hypogonadism can occur if pubertal development is not complete by ages 13-14. Hypothyroidism ranges from subclinical to overt. Impaired carbohydrate metabolism resembles type 2 diabetes and is treated with diet, insulin or oral hypoglycemic agents. Hypop
The Types and Symptoms of Congenital Adrenal Hyperplasia
Based in New Jersey, James Raphalian is a retired finance industry executive who served as senior managing director with Schwab Capital Markets. Reflecting a strong community involvement, James Raphalian has spearheaded a fundraiser for the Congenital Adrenal Hyperplasia Research Education and Support (CARES) Foundation and provides the nonprofit with ongoing financial advice.
Congenital adrenal hyperplasia (CAH) is a grouping of inherited, autosomal recessive disorders involving mutations in the adrenal glands and resulting in high male hormone levels and low cortisol levels. There are two basic types of CAH, with the most common “classic CAH” related to 21-hydroxylase deficiency and grouped into two further subtypes.
The most severe classic form is “salt-wasting CAH,” in which the adrenal glands do not produce enough aldosterone, which results in the body not retaining sufficient sodium. This condition typically occurs shortly after birth and if undiagnosed can result in death of the infant. Among the symptoms are dehydration, low blood pressure, diarrhea, and poor feeding.
Even with treatment, children with salt-wasting CAH may experience adrenal crises at times of stress or illness. For this reason, adrenal hormone medications may need to be increased at times and careful monitoring is necessary.
By contrast, non-salt wasting (simple virilizing) CAH is more moderate, with the aldosterone deficiency less severe and thus not life threatening to newborns. Nonclassic CAH also has mild 21-hydroxylase deficiency as a cause, with the symptoms typically appearing in childhood, adolescence, and the early adult years. Among the symptoms related to elevated androgens are early signs of puberty. Rapid growth may be experienced in the early teens, though the patient will be shorter than the parents at maturity.
Thalassemia and Pregnancy
This document provides information about thalassemia and pregnancy. It defines thalassemia as a genetic blood disorder characterized by reduced or absent globin chain synthesis. It discusses the types and incidence of thalassemia worldwide and in India. It outlines the approach to diagnosis including various blood tests. It covers the management of thalassemia during pregnancy including preconception care, antenatal care, intrapartum care, postpartum care and complications. The goal is to prevent the birth of children with thalassemia major through genetic counseling and screening of potential parents.
CAH and Galactosemia
CAH and galactosemia are genetic disorders. CAH is caused by a deficiency in the enzyme 21-hydroxylase, resulting in enlarged adrenal glands and excess production of male sex hormones. It can cause genital anomalies in females and salt-wasting issues. Galactosemia is caused by a deficiency in the GALT enzyme, preventing the breakdown of galactose which can lead to issues like cataracts if untreated. Both require dietary management to avoid complications.
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HMP Shunt
The document summarizes key aspects of the hexose monophosphate pathway (HMP pathway or pentose phosphate pathway). It describes the pathway's location in the cytosol and key tissues where it is active. The oxidative and non-oxidative phases of the pathway and their reactions are outlined. Regulation of the pathway by NADPH concentration is mentioned. The significance of the pathway is that it generates pentoses and NADPH, which is important for biosynthesis and antioxidant reactions. Deficiencies in the pathway can cause hemolytic anemia.
Glucose 6-phosphate dehydrogenase Defeciency أنيميا الفول
يعني ايه أنيميا الفول ؟ ليه اسمها كده .. بتحصل ازاي ؟!
ايه الأكلات اللي تتجنبها ؟ ايه الأدوية اللي ممكن تعمل مشاكل لذلك النوع من المرضى ؟
كل ده in scientific details :)
Pentose Phosphate Pathway
The pentose phosphate pathway generates NADPH and pentoses through oxidative and non-oxidative phases. It produces NADPH, an important cellular antioxidant, in tissues like liver and red blood cells. Glucose-6-phosphate dehydrogenase (G6PD) deficiency results in inadequate NADPH production and leads to hemolytic anemia upon exposure to oxidative drugs or foods. A case study describes a medical student with malaria treated with primaquine who developed hemolytic anemia due to his unknown G6PD deficiency.
HMP SHUNT PATHWAY
The HMP shunt, also known as the pentose phosphate pathway or phosphogluconate pathway, is an alternative pathway to glycolysis and the TCA cycle for glucose oxidation. It is more anabolic in nature and concerned with biosynthesis of NADPH and pentoses. Approximately 10% of glucose enters this pathway daily, with the liver and RBCs metabolizing around 30% of glucose through this pathway. The HMP shunt occurs in the cytosol and generates NADPH and pentoses like ribose-5-phosphate, which are important for lipid, steroid, and nucleic acid synthesis. No ATP is directly utilized or produced in the HMP shunt.
Hexose monophosphate shunt
The pentose phosphate pathway generates NADPH and pentose sugars through oxidative and non-oxidative branches. In the oxidative branch, glucose-6-phosphate is oxidized to produce NADPH and ribulose-5-phosphate. A series of isomerizations and transketolase reactions in the non-oxidative branch generate additional pentose phosphates and hexose phosphates. Overall, the pathway generates reducing power in the form of NADPH and pentose sugars used for nucleotide and amino acid biosynthesis.
Approach to hemolytic anemia
Dr Sarath Menon presents an approach to diagnosing and classifying hemolytic anemia. Hemolytic anemia results from increased red blood cell destruction and bone marrow compensation. It can be congenital/hereditary or acquired. Classification includes intracorpuscular defects like hemoglobinopathies and enzymopathies, and extracorpuscular factors like mechanical destruction, toxic agents, infections, and autoimmune causes. Diagnosis involves confirming hemolysis and determining the etiology through history, physical exam, peripheral smear, and ancillary lab tests. Common etiologies discussed in detail include sickle cell disease, thalassemia, G6PD deficiency, membrane defects like hereditary spherocytosis, and autoimmune
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The hexose monophosphate shunt (HMP) pathway is an alternative pathway to glycolysis that occurs in the cytoplasm of liver, adipose tissue, and red blood cells. It has two phases: an oxidative phase that produces NADPH and a non-oxidative phase that generates pentoses and glycolytic intermediates. The HMP pathway is important because it provides NADPH for reductive biosynthesis, pentoses for nucleotide and coenzyme synthesis, and intermediates that can re-enter glycolysis or gluconeogenesis.
Gb hbt
The gallbladder and biliary system functions to store and concentrate bile produced by the liver to aid in fat digestion. The gallbladder receives bile from the liver via the hepatic ducts and cystic duct and contracts to deliver it to the small intestine in response to food. Gallstones may form from changes in bile composition and can cause various clinical syndromes like cholecystitis, cholangitis, or gallstone ileus. Diagnosis involves blood tests, imaging like ultrasound or CT, and procedures like ERCP or MRCP. Treatment depends on the syndrome but typically involves laparoscopic cholecystectomy or other procedures to remove stones and ensure duct patency.
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Learning objectives:
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