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55 Cards in this Set
- Front
- Back
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Hexominidase A
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Tay-Sachs Disease
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GM2 Ganglioside Accumulation
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Tay-Sachs Disease
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Enzyme Deficiency
Glucocerebrosidase |
Gaucher Disease
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Accumulation of Glucocerbrosidase
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Gaucher Disease
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Enzyme Deficiency
Sphingomyelinase |
Niemann-Pick Disease
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Accumulation
Sphingomyelin |
Niemann-Pick Disease
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alpha-L-Iduronidase
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Hurler Syndrome
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Heperan Sulfate, dermatan sulfate
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Hurler Syndrome
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Glucose-6-phosphatase
Accumulation of Glycogen |
Von Gierke (Type I)
Enzyme Deficiency |
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alpha-1-4-glucosidase
Accumulation of Glycogen |
Pompe Disease (Type II)
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Cori Disease (Type III)
Enzyme Deficiency |
Amylo-1,6-glucosidase
Accumulation of Glycogen |
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McArdle Syndrome (Type V)
Enzyme Deficiency |
Muscle phosphorylase
Accumulation of Glycogen |
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Galactosemia- Enzyme deficiency?
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Galactose-1-phosphate uridyl transferase
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Galactosemia- Accumulation of?
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Galactose-1-Phosphate
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Phenylketonuria- Deficiency of?
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Phenalanine hydroxylase
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Phenylketonuria- Accumulation of?
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Phenylalanine and its degradation products
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Alkaptonuria- Deficincy of?
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Homogentisic oxygenase
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Alkaptonuria-Accumulation of?
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Homogentisic acid
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-CNS degeneration
-blindness -cherry red spot on macula -mental and motor retardation -death before 4 years of age |
Tay-Sachs Disease
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-hepatosplenomegaly
-erosion of femoral head and long bones -mild anemia -enlarged cells with "wrinkled tissue paper" appearance -Type II has severe CNS impairment -death before 1 year |
Gaucher
Types I, II, III |
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-cholesterol accumulation in phagocytes
-Foamy histocytes -hepatosplenomegaly -cherry red spot on macula -Death by 3 years of age -some neurologic deterioation |
Niemann-Pick Disease
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-Progressive deterioration
-gargoyle-like facies -corneal clouding -mental retardation -death by 10 years of age |
Hurler Syndrome
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Fabry Disease
Enzyme Deficiency |
alpha-Galactosidase A
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Fabry Disease
Accumulation |
Ceramide Trihexoside
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Fabry Disease
Genetics |
X-Linked
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Hunter Syndrome
Enzyme Deficiency |
L-Iduronosulfate sulfatase
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Hunter Syndrome
Accumulation |
Heparan Sulfate, dermatan sulfate
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Hunter Syndrome
Genetics |
X-Linked
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Duchenne Muscular Dystrophy
Enzyme Deficiency |
Dystrophin
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Duchenne Muscular Dystrophy
Genetics |
X-Linked
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PKU
Enzyme Deficiency |
Phenylalanine hydroxylase
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PKU
Accumulation |
Phenylalanine, phenylpyruvic Acid
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Angiokeratomas
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Fabry Disease
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Metochromatic Leukodystrophy
Enzyme Deficiency |
Arylsulfatase A
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Metachromatic Leukodystrophy
Accumulation |
Cerebroside Sulfate
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Metachromatic Leukodystrophy
Findings |
Central and peripheral demyelination with ataxia and dementia
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Krabbe's Disease
Enzyme Deficiency |
Galacatocerebrosidase
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Krabbe's Disease
Accumulation |
Galactocerbroside
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Krabbe's Disease
Findings |
-Peripheral neuropathy
-developmental delay -optic atrophy -globoid cells |
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Gaucher's Disease
Enzyme Deficiency |
B-glucocerebroside
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Gaucher's Disease
Accumulation |
Glucocerebroside
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Most Common Lysosomal Storage Disease
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Gaucher's
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Niemann-Pick Disease
Enzyme Deficiency |
Sphingomyelinase
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Niemann-Pick Disease
Accumulation |
Sphingomyelin
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Niemann-Pick Disease
Findings |
-progressive neurodegeneration
-hepatosplenomegaly -cherry red spot on macula -FOAM cells |
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Tay-Sachs Disease
Enzyme Deficiency |
Hexominidase A
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Tay-Sachs Disease
Accumulation |
GM2 Ganglioside
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Tay-Sachs Disease
Findings |
-preogressive neurodegeneration
-developmental delay -cherry-red spot on macula -lysosomes with onion skin -NO HEPATOSPLENOMEGALY |
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Hurler's Syndrome
Enzyme Deficiency |
alpha-L-iduronidase
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Hurler's Syndrome
Accumulation |
Heparan sulfate, dermatan sulfate
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Hunter's Syndrome
Enzyme deficiency |
Iduronate sulfatase
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Hunter's Syndrome
Accumulation |
Heparan sulfate, dermatan sulfate
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Fabry's Disease
Findings |
-Peripheral neuropathy of hands/feet
-angiokeratomas -cardiovascular/renal disease |
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Gaucher's Disease
Findings |
-Hepatosplenomegaly
-aseptic necrosis of femur -bone crisis -Gaucher's cells (crumpled tissue paper) |
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Acrodermatitis Enteropathica
Enzyme Deficiency |
Intestinal Zinc Transporter
(gene: SLC39A4) |
