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12 Cards in this Set
- Front
- Back
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Hunter's
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"hunters aim for the X" (X-linked recessive)
Mycopolysaccarodoses mild Hurler's + agressive behavior No corneal clouding Deficient enzyme: Iduronate Sulfatase Accumulation: Heparan sulfate, dermatan sulfate Inheritence: XR |
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Hurler's
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Mycopolysaccarodoses
Developmental delay Gargoylism Airway obstruction Corneal clouding Deficient enzyme: alpha-L-Iduronidase Accumulation: Heparan sulfate, dermatan sulfate Inheritence: AR |
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Metachromatic Leukodystrophy
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Central and peripheral de-myelination with ataxia
dementia Deficient enzyme: Aryl sulfatase A (pt can't degrade sulfitides--cerebroside sulfate accumulates) leads to abnormal myelination and de-myelination in CNS and perphery histology: metachromatic granules Accumulation: Cerebroside Sulfate Inheritence: AR |
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Krabbe's disease
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peripheral neuropathy, developmental delay, optic atrophy
Deficient enzyme: Beta galactosidase Accumulation: Galactocerebroside Inheritence: AR |
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Tay Sacks disease
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(Ashkenazi jews)
"Tay Sax--lacks heXominidase" progressive neurodegeneration(mental retardation), developmental delay, cherry red spot, lysozymes with onion skin hyperacusis, hypotonia death by 3 y/o Deficient enzyme: Hexoaminidase A Accumulation: GM2 ganglioside Inheritence: AR |
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Nieman-Pick disease
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(Ashkenazi jews)
"no man picks his nose with his sphinger" (sphingomyelinase) progressive neurodegeneration (Mental retardation) hepatosplenomegaly (large belly) cherry red spot on macula "foamy" macrophages death by age 3 Deficient enzyme: Sphingomyelinase Accumulation: Sphingomyelin Inheritence: AR |
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Gaucher's Disease
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most common lysosomal storage disease
Hepatosplenomegaly, aseptic necrosis of the femur, bone crisis, Gaucher's cells (macrophages) no mental retardation! Deficient enzyme: Beta-Glucocerebrosidase Accumulation: Glucocerebroside Inheritence: AR (Ashkenazi jews) |
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Farby's disease
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peripheral neuropathy of hands and feet. Angiokeratomas
Cardiovascular/renal disese Hypohidrosis Deficient enzyme: Alpha galactosidase A Accumulation: Ceramide trihexoside (gets deposited in the vascular endothelium) Inheritence: XR |
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Von Gierke's disease (type I)
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Glycogen Storage disease
Deficient enzyme: Glucose-6-phosphate Presentation: Severe fasting hypoglycemia,Increased glycogen in liver, increased lactate in blood, hepatomegaly ("liver becomes a muscle") |
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Pompe's Disease (type II)
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Glycogen Storage disease
Lysosomal alpha 1,4-glucosidase (acid maltase) Cardiomegaly, systemic findings---leads to early death "Pompe trashes the pump--heart ,liver and muscle" |
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Cori's Disease (Type III)
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Glycogen Storage disease
Deficiency of debranching enzyme -- alpha 1,6 glucosidase "milder form of type I with normal blood lactate levels" |
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McArdle's disease (type V)
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Glycogen Storage disease
Glycogen Storage disease McArdle's = muscle deficiency of skeletal muscle glycogen phosphorylase Symptoms: Increased glycogen in muscle--cannot break it down leading to painful muscle cramps, myoglobinuria w/ strenuous exercise |
