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8 Cards in this Set
- Front
- Back
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Fabry's Disease
Inheritance? Findings? Deficient enzymes? Accumulated Substrate |
Fabry's Disease - X-linked Recessive
Findings: 1. Peripheral Neuropathy of hands/feet 2. Angiokeratomas 3. Cardiovascular/renal disease Deficient Enzyme: Alpha-galactosidase Accumulated Substrate: Ceramide Trihexoside |
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Gaucher's Disease
Inheritance? Findings? Deficient enzymes? Accumulated Substrate |
Gaucher's Disease - Autosomal Recessive
Findings: 1. Hepatosplenomegaly 2. Aseptic Necrosis of the femur, Bone Crises 3. Gaucher's Cells - macrophages that look like crumpled tissue paper Deficient Enzyme: Glucocerebrosidase Accumulated Substrate: Glucocerebroside |
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Niemann-Pick Disease
Inheritance? Findings? Deficient enzymes? Accumulated Substrate |
Niemann-Pick Disease - Autosomal Recessive
Findings: 1. Progressive neurodegeneration 2. Hepatosplenomegaly 3. Cherry Red Spot on Macula Enzyme Deficiency: Sphingomyelinase Accumulated Substrate: Sphingomyelin |
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Tay Sach's Disease
Inheritance? Findings? Deficient enzymes? Accumulated Substrate |
Tay Sach's Disease - Autosomal Recessive
Findings: 1. Neurodegeneration and developmental delay 2. Cherry red spot on macula 3. Lysosomes with onion skin 4. NO HEPATSPLENOMEGALY Deficient Enzyme: Heoxosamidinase A Accumulated substrate: GM2-Ganglioside |
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Krabbe's Disease
Inheritance? Findings? Deficient enzymes? Accumulated Substrate |
Krabbe's Disease - Autosomal Recessive
Findings: 1. Peripheral Neuropathy 2. Developmental Delay 3. Optic Atrophy 4. Globoid Cells Deficient Enzyme: Beta-Galactocerebrosidase Accumulated enzyme: Galactocerebroside |
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Metachromatic Leukodystrophy
Inheritance? Findings? Deficient enzymes? Accumulated Substrate |
Metachromatic Leukodystrophy - Autosomal Recessive
Findings: 1. Central and Peripheral demyelination with ataxia and dementia Deficient Enzyme: Arylsulfatase A Accumulated Substrate: Cerebroside Sulfate |
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Hurler's Syndrome - Autosomal Recessive
Inheritance? Findings? Deficient enzymes? Accumulated Substrate |
Hurler's Syndrome - Autosomal Recessive
Findings: 1. Developmental Delay 2. Gargoylisms 3. Airway obstruction 4. Corneal Clouding 5. Hepatosplenomegaly Deficient Enzyme: Alpha-L-Iduronidase Accumulated Substrate: Heparan Sulfat, Dermatan Sulfate |
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Hunter's Syndrome
Inheritance? Findings? Deficient enzymes? Accumulated Substrate |
Hunter's Syndrome - X-lined Recessive
Findings: 1. Milde Hurler's 2. Aggressive behavior 3. No corneal clouding Deficient Enzyme: Iduronate Sulfatase Accumulated Substrate: Heparan Sulfate, Dermatan Sulfate |
