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33 Cards in this Set
- Front
- Back
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Severe fasting hypoglycemia, increased glycogen in liver, hepatomegaly, increased blood lactate
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Type I: Von Gierke's disease
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Deficiency in Von Gierke's disease
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glucose-6-phosphatase
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Cardiomegaly and systemic findings, leading to early death
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Type II: Pompe's disease
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Deficiency in Pompe's disease
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lysosomal-alpha-1,4 glucosidase
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Milder form of Von Gierke's disease with normal blood lactate
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Cori's disease
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Deficiency in Cori's disease
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debranching enzyme alpha-1,6-glucosidase
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Increased glycogen in muscle but cannot break it down, leading to painful cramps, myoglobinuria with strenuous exercise
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type V: McArdle's disease
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Deficiency in McArdle's disease
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skeletal muscle glycogen phosphorylase deficiency
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Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease
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Fabry's disease
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Hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells (macrophages)
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Gaucher's disease
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Progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula
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Niemann-Pick disease dx
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Progressive neurodegeneration, developmental delay, cherry-red spot, lysozymes with onion skin
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Tay-Sachs dx
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Peripheral neuropathy, developmental delay, optic atrophy
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Krabbe's dx
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central and peripheral demyelination with ataxia, dementia
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metachromatic leukodystrophy
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developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
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Hurler's syndrome
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Mild Hurler's + aggressive behavior, no corneal clouding
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Hunter's syndrome
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Deficient enzyme in Fabry's dx
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alpha-galactosidase A
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inc substrate in Fabry's disease
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ceramide trihexoside
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deficient enzyme in Gaucher's dx
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beta-glucocerebrosidase
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inc substrate in Gaucher's dx
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Glucocerebroside
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deficient enzyme in Niemann-Pick dx
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Sphingomyelinase
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inc substrate in Niemann-Pick's dx
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Sphingomyelin
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deficient enzyme in Tay Sach's
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Hexosaminidase A
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inc substrate in Tay-Sach's
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GM2 ganglioside
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deficient enzyme in Krabbe's dx
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beta-galactosidase
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inc substrate in Krabbe's dx
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galactocerebroside
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deficient enzyme in metachromatic leukodystrophy
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arylsulfatase A
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inc substrate in metachromatic leukodystrophy
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cerebroside sulfate
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deficient enzyme in Hurler's syndrome
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alpha-L-iduronidase
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inc substrate in Hurler's syndrome
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heparan sulfate, dermatan sulfate
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deficient enzyme in Hunter's syndrome
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iduronate sulfatase
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inc substrate in Hunter's syndrome
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heparan sulfate, dermatan sulfate
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name 2 lysosomal storage diseases that are X-linked recessive instead of autosomal recessive
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Fabry's dx, Hunter's syndrome
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