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33 Cards in this Set

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