This document provides information on various metabolic inborn errors including phenylketonuria, maple syrup urine disease, homocystinuria, tyrosinemia, galactosemia, glycogen storage diseases, and Niemann-Pick disease. It defines metabolic inborn errors as disorders caused by single gene defects that block metabolism. For each condition, it describes the genetic cause, signs and symptoms, diagnosis, and treatment. The document is presented as part of a biochemistry assignment on metabolic inborn errors for a health sciences university in Central America.
Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body's ability to convert galactose (a sugar contained in milk, including human mother's milk) to glucose (a different type of sugar).
Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body's ability to convert galactose (a sugar contained in milk, including human mother's milk) to glucose (a different type of sugar).
Amino acid metabolism disorders are hereditary metabolic disorders. Hereditary disorders occur when parents pass the defective genes that cause these disorders on to their children. Amino acids are the building blocks of proteins and have many functions in the body. Hereditary disorders of amino acid processing (metabolism) can result from defects either in the breakdown of amino acids or in the body’s ability to get amino acids into cells.
MSUD is metabolic genetic error . It happens due to lack of an enzyem that degrades specific amino acids
Homocystinuria is also a metbolic genetic error due to an enzyme defficiency it leads to an accumulation of homocystein and related chemical in the blood
Protein which are major component of our diet have amino acid as their precursor and also act as important energy source. Any imbalance in the metabolism of these amino acid cause disorders
Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites (homocystine, homocysteine-cysteine complex, and others) in blood and urine. Normally, these metabolites are not found in appreciable quantities in blood or urine.
AMINO ACID METABOLISM DISORDERS Twenty amino acids, including nine that cannot be synthesized in humans and must be obtained through food, are involved in metabolism. Amino acids are the building blocks of proteins; some also function as or are synthesized into important molecules in the body such as neurotransmitters, hormones, pigments and oxygen-carrying molecules.
inborn errors of metabolism. Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food
Comprehensive description of various primary dyslipidemias, cholesterol transport and molecular mechanisms involved.
View in slideshow after downloading for better experience.
Prepared in Dec 2013.
What is a metabolic disease?
Inborn errors of metabolism”
inborn error : an inherited (i.e. genetic) disorder
metabolism : chemical or physical changes in a biological system
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed with:
Blood tests, Urine tests, Physical exams, Metabolic testing, Genetic testing, Amniocentesis, Glucose testing, and Eye exams.
Early diagnosis of IEMs can prevent the onset of severe clinical symptoms. Treatment is tailored to the specific disorder once a diagnosis is made. In general, the goals of treatment are to minimize or eliminate the buildup of toxic metabolites that result from the block in metabolism while maintaining growth and development. Treatment can include: Changing your diet, Taking medicine, Dialysis, and Organ transplant.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed with:
Blood tests, Urine tests, Physical exams, Metabolic testing, Genetic testing, Amniocentesis, Glucose testing, and Eye exams.
Early diagnosis of IEMs can prevent the onset of severe clinical symptoms. Treatment is tailored to the specific disorder once a diagnosis is made. In general, the goals of treatment are to minimize or eliminate the buildup of toxic metabolites that result from the block in metabolism while maintaining growth and development. Treatment can include: Changing your diet, Taking medicine, Dialysis, and Organ transplant.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed with:
Blood tests, Urine tests, Physical exams, Metabolic testing, Genetic testing, Amniocentesis, Glucose testing, and Eye exams.
Early diagnosis of IEMs can prevent the onset of severe clinical symptoms. Treatment is tailored to the specific disorder once a diagnosis is made. In general, the goals of treatment are to minimize or eliminate the buildup of toxic metabolites that result from the block in metabolism while maintaining growth and development. Treatment can include: Changing your diet, Taking medicine, Dialysis, and Organ transplant.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed w
Amino acid metabolism disorders are hereditary metabolic disorders. Hereditary disorders occur when parents pass the defective genes that cause these disorders on to their children. Amino acids are the building blocks of proteins and have many functions in the body. Hereditary disorders of amino acid processing (metabolism) can result from defects either in the breakdown of amino acids or in the body’s ability to get amino acids into cells.
MSUD is metabolic genetic error . It happens due to lack of an enzyem that degrades specific amino acids
Homocystinuria is also a metbolic genetic error due to an enzyme defficiency it leads to an accumulation of homocystein and related chemical in the blood
Protein which are major component of our diet have amino acid as their precursor and also act as important energy source. Any imbalance in the metabolism of these amino acid cause disorders
Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites (homocystine, homocysteine-cysteine complex, and others) in blood and urine. Normally, these metabolites are not found in appreciable quantities in blood or urine.
AMINO ACID METABOLISM DISORDERS Twenty amino acids, including nine that cannot be synthesized in humans and must be obtained through food, are involved in metabolism. Amino acids are the building blocks of proteins; some also function as or are synthesized into important molecules in the body such as neurotransmitters, hormones, pigments and oxygen-carrying molecules.
inborn errors of metabolism. Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food
Comprehensive description of various primary dyslipidemias, cholesterol transport and molecular mechanisms involved.
View in slideshow after downloading for better experience.
Prepared in Dec 2013.
What is a metabolic disease?
Inborn errors of metabolism”
inborn error : an inherited (i.e. genetic) disorder
metabolism : chemical or physical changes in a biological system
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed with:
Blood tests, Urine tests, Physical exams, Metabolic testing, Genetic testing, Amniocentesis, Glucose testing, and Eye exams.
Early diagnosis of IEMs can prevent the onset of severe clinical symptoms. Treatment is tailored to the specific disorder once a diagnosis is made. In general, the goals of treatment are to minimize or eliminate the buildup of toxic metabolites that result from the block in metabolism while maintaining growth and development. Treatment can include: Changing your diet, Taking medicine, Dialysis, and Organ transplant.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed with:
Blood tests, Urine tests, Physical exams, Metabolic testing, Genetic testing, Amniocentesis, Glucose testing, and Eye exams.
Early diagnosis of IEMs can prevent the onset of severe clinical symptoms. Treatment is tailored to the specific disorder once a diagnosis is made. In general, the goals of treatment are to minimize or eliminate the buildup of toxic metabolites that result from the block in metabolism while maintaining growth and development. Treatment can include: Changing your diet, Taking medicine, Dialysis, and Organ transplant.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed with:
Blood tests, Urine tests, Physical exams, Metabolic testing, Genetic testing, Amniocentesis, Glucose testing, and Eye exams.
Early diagnosis of IEMs can prevent the onset of severe clinical symptoms. Treatment is tailored to the specific disorder once a diagnosis is made. In general, the goals of treatment are to minimize or eliminate the buildup of toxic metabolites that result from the block in metabolism while maintaining growth and development. Treatment can include: Changing your diet, Taking medicine, Dialysis, and Organ transplant.
EMs can be classified into two broad categories: those that affect energy production, and those that affect the synthesis or degradation of specific molecules or compounds. The majority of IEMs are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. IEMs can be diagnosed w
A research including most disorders concerned with the inborn (neonates) including:
Malnutrition / Nutrition disorders
Congenital renal disorders
Inborn metabolic errors
congenital liver disorders (Cigler Najar syndrome - Rotor syndrome - Dubin johnson syndrome) and others ...
presentation on celiac disease by Dr Muhammad Asad Abbasi.
in this presentation you will learn about approach and clinical presentation of celiac disease and its management
Metabolic Disorders: All You Need to Know EPIC Health
Get to know everything about inherited and acquired metabolic disorders – their causes, types, symptoms, effects, and line of treatment for happy and healthy living.
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Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
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Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
2. INDEX
METABOLIC INBRON ERRORS
PHENYLYKETONURIA
MAPLE SYRUP URINE DISORDER
HOMOCYSTINURIA
TYROSINEURIA
TYROSINEURIA TYPE 1
TYROSINEURIA TYPE 2
TYROSINEURIA TYPE 3
GALACTOSEMIA
GALACTOSEMIA TYPE 1
GALACTOSEMIA TYPE 2
GALACTOSEMIA TYPE 3
POMPE’S DISEASE
ANDERSON’S DISEASE
VON GIERKE’S DISEASE
GRAVES’ DISEASE
3. METABOLIC INBORN ERRORS
Inborn errors of metabolisms, is a group of disorders
where a single gene defect causes a block in the
metabolism.
It is caused by the defect in the enzymes that metabolize:
Proteins
Carbohydrates
Lipids
Fats
4. Amino acid Metabolic Disorders
Phenylketonuria
Maple syrup urine disease
Homocystinuria
Tyrosineuria
Carbohydrates Metabolic Disorders
Galactosemia
Glycogen storage disease type 1 Glycogen storage disease type 2 - Pompe Disease
Glycogen storage disease type 4
Defects of glucose homoeostasis - 20
Defects of amino acids
- 10
Defects of fatty or organic acids - 20
5. Defects of Lactate and others
- 20
Every child with unexplained
Neurological deterioration
Metabolic acidosis
Hypoglycemia
Inappropriate ketosis
Hypotonia
Cardiomyopathy
Hepatocellular dysfunction
Failure to thrive
Phenylketonuria
Also known as PKU
Deficiency of Phenylalanine hydroxylase [PAH]
7. Case presentation
A 30 year old female named Ann had delivered her child having
symptoms like phenyl ketones in blood which was checked
under screening test for phenyl ketonuria. They also found that
phenyl pyruvate is present in urine.
History: parents have no evidence of having phenyl ketonuria
but child grandmother has same diseases (suggest the diseases
are autosomal recessive)
Symptoms and cause of symptoms
Lack of neural reflexes: because of degeneration on neural
tissue by phenyl ketone accumulation
microcephally: because of degeneration on neural tissue by
8. phenyl ketone accumulation presence of phenyketones in
blood : lack of enzyme phenyl alanine hydroxilase
Diagnosis: maternalphenyalketonuria
Treatment
If PKU is diagnosed early enough, an affected newborn can grow
up with normal brain development, but only by managing and
controlling Phenyle ketone levels through diet, or a combination
of diet and medication. Optimal health ranges (or "target
ranges") are between 120 and 360 µmol/L, and aimed to be
achieved during at least the first 10 years
PKU patients must adhere to a special diet low in Phe for
optimal brain development. "Diet for life" has become the
standard recommended by most experts. The diet requires
severely restricting or eliminating foods high in Phe, such as
meat, chicken, fish, eggs, nuts, cheese, legumes, milk and other
dairy products. Starchy foods, such as potatoes, bread, pasta,
and corn, must be monitored. Infants may still be breastfed to
provide all of the benefits of breast milk, but the quantity must
also be monitored and supplementation for missing nutrients
will be required. The sweetener aspartame, present in many
diet foods and soft drinks, must also be avoided, as aspartame
consists of two amino acids: phenylalanine and aspartic acid.
9. Maple Syrup Urine Disease
It is also known as MSUD and
It is an inherited, as it is passed from parent to child.
It is autosomal.
The defective gene is located on an autosome.
Majority of people that get MSUD are Caucasian.
It affects the Blood
Brain
Urine, thou is does not affect any specific organs
but brain.
It usually affects babies from all age.
Older infants require a diet not consisting of Eggs, Nuts and
Meat.
If the baby is not treated or screened, the baby will die in
months.
10. Diagnosis/Detection
To determine if someone has MSUD, you have to look the urine
odor for a sweet smell.
Blood test for amino acids.
If alloisoleucine is detected, the diagnosis is confirmed.
Deficiency of Branched chain alpha keto acid dehydrogenase
complex (BCKDC)
Sign and Symptoms- Maple syrup odor
Dehydration
Hypoglycemia
Ketoacidosis
Coma
Brain damage (if untreated)
Vomiting
Lethargy [lack of energy]
There is no cure for MSUD, however a special diet cant help
prevent these health problems.
Treatment- High doses of Thiamine
12. Homocystinuria
CBS deficiency
Homocystine accumulates in the urine.
It builds up to toxin levels in the body due to the CBS
deficiency.
It is a very rare disease that affects about 200,000 to
300,000 babies born.
It occurs in almost all ethnic groups.
Diagnosis
It is confirmed by measuring the levels of amino acids in
the blood and urine.
Levels of total homocystine and methionine will be
elevated while the level of cystine will be decreased.
CBS enzyme ang genetic testing can also be used to
confirm the diagnosis.
Deficiency of- Methionine and often involving
Cystathionine beta synthase
13. Sign and Symptoms- Flush around cheeks
Methione in urine
Knock knees
Treatment- Not specific but sometimes
Low diet in Methionine
Vitamin B6, B12, Betaine and Folic
acid supplement is given. The special diet can lower the
risk.
14.
15. Tyrosinemia
Mutations in the gene for fumarylacetoacetase
[FAH] result in enzyme that is not working well
or it is deficient.
It is a genetic disorder characterized by elevated blood
levels of the amino acids tyrosine.
It is also known as Hypertyrosinemia, type 1 and type 2 .
Type 1
Deficiency of Fumarylacetoacetate hydroxylase
Type 2
Deficiency of Tyrosine aminotransferase
Clinical features: Involve only skin, eyes and CNS which may
lead to excessive tearing, photophobia, eye pain and redness
and skin lesions.
16. Type 3
Deficiency of 4-Hydroxyphenylpyruvate dioxygenase
Clinical features: It is not well known. Elevated tyrosine levels in
a healthy newborn with no liver, renal and skin abnormalities.
Risk factors include prematurity, high protein intake and
deficient intake of Vitamin C.
Sign and Symptoms- No weight gain
Jaundice
Nose bleed
Liver / kidney failure
Liver cancer risk
Painful skin
18. Galactosemia
Lactose is the main carbohydrate in breast milk
and most non-soy infant formulas and is broken
down into glucose and galactose in the intestine.
Individuals with galactosemia are not able to
utilize galactose because an enzyme, called GALT
(galactose-1-phosphate uridyl transferase), is
defective or deficient. This leads to an accumulation
of galactose and other harmful substances in the
blood and urine, which can cause serious health
problems. Some individuals have a milder form of
the condition in which there is some GALT activity.
What is its incidence?
The incidence of classic galactosemia has been
estimated to be approximately 1 in 60,000, although
the numbers will vary according to different sources.
What causes the disease?
Mutations in the GALT gene produce an enzyme
with deficient activity.
What are the clinical features of
the disease?
Although babies with galactosemia are normal at
birth, they may have serious problems without
treatment. The inability to metabolize galactose
can result in life-threatening complications
including hypoglycemia, feeding problems, failure
to thrive, liver damage, lethargy, bleeding, and
sepsis. Even with early treatment, however,
children with galactosemia are at increased risk
19. for developmental delays, speech problems,
abnormalities of motor function. cataracts, and,
in females, premature ovarian failure.
How is the diagnosis confirmed?
The diagnosis of galactosemia can be confirmed
by measuring the amount of galactose, galactose-1phosphate, and GALT enzyme activity in the blood.
Genetic testing to look for mutations in the GALT
gene may also assist in confirming the diagnosis.
Diagnostic testing is arranged by specialists at your
regional treatment centre.
What is the treatment of the disease?
A galactose-restricted diet is effective in preventing
many of the complications of galactosemia,
including the liver and kidney problems. It may
also reduce the risk for developmental delays.
Treatment is coordinated by specialists at your
regional treatment centre.
What is the outcome of treatment?
Although early identification and treatment will
ensure the best outcome, some individuals with
galactosemia are still at increased risk to develop
complications, as discussed in Clinical Features.
Can a family have more than one child
with Galactosemia?
Galactosemia is inherited as an autosomal recessive
disease. Parents of a child with galactosemia are
assumed to be carriers for the disease and have a
1 in 4 (25%) chance, in each pregnancy, of having
another child with this condition. Prenatal testing
for galactosemia can be done as early as 15-16 weeks
20. of pregnancy. Genetic counselling to discuss the
benefits of prenatal testing options in more detail
is recommended.
Unaffected siblings of a child with galactosemia
have a 2/3 chance of being carriers. Carriers are
healthy and do not have symptoms of galactosemia
Type 1
Deficiency of galactose 1 phosphate uridyl transferase
Type 2
Deficiency of galactokinase
Type 3
Deficiency of UDPgalactose epimerase
Sign and symptoms- Jaundice
Diarrhea
Vomiting
Lethary
Treatment- Eliminating Lactose and Galactose from diet.
21. Von Gierke disease
Glycogen storage disorder type 1
Deficiency of glucose-6-phosphate
Sign and Symptoms- Hypoglycemia
Lactic acidosis
Thin arms and legs
Short stature
Enlarged kidney
Treatment- avoiding sugars
22. Niemen pick diseases
Niemen–Pick disease refers to manrope of fatal
inherited metabolic disorders that are included in the larger
family oflysosomal storage diseases.
Signs and symptoms
.Enlargement of the liver and spleen hepatosplenomegaly
Abdominal distension and pain as well as
thrombocytopenia secondary to splenomegaly.
Slurring of speech (dysarthria) and disco ordinated swallowing
(dysphagia).
Basal ganglia dysfunction causes abnormal posturing of the
limbs,
23. Trunk and face (dystonia) and upper brainstem disease results
in impaired voluntary rapid eye movements (supranuclear gaze
palsy).
Bone marrow cavities may be enlarged and the cortical
bone may be thinned.
.
ETIOLOGY
Niemen–Pick diseases are genetic diseases which are classified
in a subgroup of LSDs
called sphingolipidoses or lipid storage disorders in which
harmful quantities of fatty substances, or lipids, accumulate in
the spleen, liver, lungs, bone marrow, and brain. In the classic
infantile type A variant, a missense mutation causes complete
deficiency of sphingomyelinase. Sphingomyelin is a component
of cell membrane including the organelle membrane and so the
enzyme deficiency blocks degradation of lipid, resulting in the
accumulation of Sphingomyelin within lysosomes in the
macrophage-monocyte phagocyte lineage. Affected cells
become enlarged, sometimes up to 90 micrometers in
diameter, secondary to the distention of lysosomes with
Sphingomyelin and cholesterol. Histology demonstrates lipid
laden macrophages in the marrow, as well as "sea-blue
histiocytes" on pathology. Numerous small vacuoles of
relatively uniform size are created, imparting a foamy
appearance to the cytoplasm.
Treatment
Treatments for Niemen–Pick disease are,
• organ transplant
• ,enzyme replacement and gene therapy.
• Bone marrow transplant
Prognosis
24. Type A Niemen Pick disease has an extremely poor prognosis
with most cases being fatal by the age of 18 months. Type B and
C Niemen Pick disease have a better prognosis, with many
patients with these disorders living into their teens or
adulthood
25. Graves’ disease
It is a type of hyperthyroidism, which is caused by a generalized
over activity of the entire thyroid gland.
It is an autoimmune disease.
Cause : In this disease instead of destroying the thyroid gland,
an antibody called thyrotropin receptor antibody [TRAb] makes
the thyroid gland produce large amounts of thyroid harmone. It
is most common in women over age of 20 years.
Symptoms: Anxiety
Breast enlargement in men
Difficulty in concentrating
Double vision
Eyeballs that stick out [exophthalmos]
Eye irritation and tearing
Fatigue
Frequent bowel movements
Goiter [possible]
Increased appetite
Increased sweating
Insomnia
Muscle weakness
Nervousness
Weight loss
Restlessness
26. Diagnosis
In the examination doctor will look for a Goiter
Enlarged thyroid gland
A rapid pulse
Tremor
Blood test
A radioactive-iodine uptake test and
Thyroid scan
Treatment
The purpose of the treatment is to control the over activity of
the thyroid gland.
Antithyroid medications
Radioactivity iodine
Surgery
The eye problems related to graves disease usually improve
when hyperthyroidism is treated with medications,
Pompe’s disease
27. Glycogen storage disease type 2
Deficiency of Acid maltose and
Acid alpha glucosidase
Sign and symptoms- Myopathy
Hypotonia
Hepatomegaly
Heart defects
Delayed motor skills
Treatment- No permanent cure
28. REFERENCES
Wikipedia
Docstocs
Quizlet
Slideshares
Study stack
Bibliography
(PhD.), K. P. (2003, July 07). Tyrosinemia. Retrieved July 10, 2013, from malacards: www.malacards.org
Smith, D. J. (2010, June 17). Tyrosinemia. Retrieved July 10, 2013, from Dostoc: www.docstoc.com
Sosa, D. J. (2002, January 23). Understanding Galctosemia. Retrieved July 10, 2013, from Galactosemia:
http://galactosemia.org/PDFs/UnderstandingGalactosemiaDietGuide3.pdf
Medline Plus. (2005, March 08). Galctosemia. Retrieved june 22, 2013, from Medline Plus:
http://www.nlm.nih.gov/medlineplus/ency/article/000366.htm
True Star Health. (2012, June 06). Homocysteinuria. Retrieved from True Star Health:
http://www.truestarhealth.com/Notes/1029002.html#Condition-Symptoms
wikipedia. (2006, June 11). Galactosemia. Retrieved from wikipedia: http://en.wikipedia.org/wiki/Galactosemia
Wikipedia. (2006, August 30). MSUD. Retrieved June 22, 2013, from Wikipedia:
http://en.wikipedia.org/wiki/Maple_syrup_urine_disease
Wikipedia. (2010, June 12). MSUD. Retrieved from Wikipedia:
http://en.wikipedia.org/wiki/Maple_syrup_urine_disease
Wikipedia. (2011, January 23). homocystenuria. Retrieved from Wikipedia:
http://en.wikipedia.org/wiki/Homocystinuria
36. Bibliography
(PhD.), K. P. (2003, July 07). Tyrosinemia. Retrieved July 10, 2013, from malacards: www.malacards.org
Smith, D. J. (2010, June 17). Tyrosinemia. Retrieved July 10, 2013, from Dostoc: www.docstoc.com
Sosa, D. J. (2002, January 23). Understanding Galctosemia. Retrieved July 10, 2013, from Galactosemia:
http://galactosemia.org/PDFs/UnderstandingGalactosemiaDietGuide3.pdf
Medline Plus. (2005, March 08). Galctosemia. Retrieved june 22, 2013, from Medline Plus:
http://www.nlm.nih.gov/medlineplus/ency/article/000366.htm
True Star Health. (2012, June 06). Homocysteinuria. Retrieved from True Star Health:
http://www.truestarhealth.com/Notes/1029002.html#Condition-Symptoms
wikipedia. (2006, June 11). Galactosemia. Retrieved from wikipedia: http://en.wikipedia.org/wiki/Galactosemia
Wikipedia. (2006, August 30). MSUD. Retrieved June 22, 2013, from Wikipedia:
http://en.wikipedia.org/wiki/Maple_syrup_urine_disease
Wikipedia. (2010, June 12). MSUD. Retrieved from Wikipedia:
http://en.wikipedia.org/wiki/Maple_syrup_urine_disease
Wikipedia. (2011, January 23). homocystenuria. Retrieved from Wikipedia:
http://en.wikipedia.org/wiki/Homocystinuria