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15 Cards in this Set
- Front
- Back
- 3rd side (hint)
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niemann-pick disease
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sphingomyelinase - sphingomyelin in brain and blood cells - mental retardation, spasticity, seizures, ataxia, death by 2-3, autosomal recessive
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fabry disease
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alpha-galactosidase A - glycolipids in brain, heart, kidney - pain in extremeties, skin lesions, hypohidrosis (decreased ability to sweat), ischemic infarction of affected tissues
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krabbe disease
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beta galctosidase - demyelination, hypertonia, hyperreflexia, decerebrate posturing
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gaucher disease
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glucocerebrosidase - glucocerebrosides accumulate in blood cells liver and spleen - hepatosplenomegaly, thrombocytopenia, autosomal recessive
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tay-sachs disease
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hexosaminidase A - GM2 gangliosides accumulate in neurons - neurodegeneration, developmental delay, autosomal recessvie
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metachromatic leukodystrophy
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arylsulfatase A - sulfated glycolipid compounds accumulate in neural dissue causeing demyelination of CNS and peripheral nerves - loff of cognitive and motor functions, ataxia, hyporeflexia
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type 0
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glycogen synthase - fasting hypoglycemia, occasional muscle cramping, treat with uncooked starch frequent meals
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type IV - Andersen disease
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debranching enzyme deficiency - fail to thrive, glycogen with long outer branches, cirrhosis
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None
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type VI - Hers disease
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partial deficiency of liver phosphorylase - extreme hepatomegaly, range of hypoglycemia
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type V - McArdle disease
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muscle phosphorylase deficiency - exercise-induced cramps and pain secondary to rhabdomyolysis, may get myoglobinuria and renal failure
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type III - Cori disease
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brancing enzyme deficiency - hepatomegaly, hypoglycemia during fasting, myopathy, small meals
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type II - Pompe disease
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lysosomal storage disease - accumulation of glycogen in lysosome, heart muscle disfunction and infantile floppiness with death by 2 yo (IIa), IIb (juvenille) and IIc (adult) skeletal muscle weakness
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type IX
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phosphorylase kinase - hepatomegaly, growth retardation, delayed motor development, increased blood lipids, complex, X-linked
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type I - von Gierke disease
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glucose-6-phosphatase deficiency - severe hypoglycemia, lethargy, seizures, brain damage, hepatomegaly, growth retardation, treat with frequent meals and nighttime nasogastric feedings
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type XI - Fanconi-Bickel syndrome
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hepatic glut-2 transporter deficiency - hypoglycemia, ketonuria, hypercholesterolemia
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