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15 Cards in this Set

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