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33 Cards in this Set

  • Front
  • Back
Von Gierke's disease

Deficient enzyme
glucose-6-phosphatase
Von Gierke's disease

Findings
Type I glycogen storage disease

Severe fasting hypoglycemia, increased glycogen in liver, increased blood lactate, hepatomegaly
Pompe's disease

Deficient enzyme
Lysosomal alpha-1-4-glucosidase (acid maltase)
Pompe's disease

Findings
Type II glycogen storage disease

Cardiomegaly and systemic findings leading to early death

Pompe's trashes the Pump (heart, liver and muscle)
Cori's disease

Deficient enzyme
Debranching enzyme, alpha-1,6-glucosidase
Cori's disease

Findings
milder form of type I (Von Gierke's disease) with normal blood lactate levels

Gluconeogenesis is intact
McArdle's disease

Deficient enzyme
Skeletal muscle glycogen phosphorylase
McArdle's disease

Findings
increased glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenuous exercise

McArdles: think MUSCLE
Fabry's disease

Deficient enzyme
Sphingolipidoses

alpha-galactosidase A

X-linked recessive!!!
Fabry's disease

accumulated substrate
ceramide trihexoside

X-linked recessive!!!
Fabry's disease

Findings
peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease

X-linked recessive!!!
Gaucher's disease

Deficient enzyme
beta-glucocerebrosidase!!

AR
Gaucher's disease

Accumulated substrate
Glucocerebroside
Gaucher's disease

Findings
AR!!

hepatosplenomegaly, aseptic necrosis of the femur, bone crises; Gaucher's cells (macrophages that look like crumpled paper)
Niemann-Pick disease

Deficient enzyme
Sphingomyelinase
Niemann-Pick disease

Accumulated substrate
Sphingomyelin

AR
Niemann-Pick disease

Findings
progressive neurodegeneration, hepatosplenomegaly, cherry-red-spot (on macula), foam cells

AR!
Tay-Sachs disease

Deficient enzyme
hexosaminidase
Tay-Sachs disease

Accumulated substrate
GM2 ganglioside

AR
Tay-Sachs disease

Findings
progressive neurodegeneration, developmental delay, cherry-red spot, lysosomes with onion skin!!
Krabbe's disease

Deficient enzyme
Galactocerebrosidase

AR
Krabbe's disease

Accumulated substrate
galactocerebroside
Krabbe's disease

Findings
peripheral neuropathy, developmental delay, optic atrophy, globoid cells
Metachromic leukodystrophy

Deficient enzyme
Arylsulfatase A
Metachromic leukodystrophy

Accumulated substrate
Cerebroside sulfate
Metachromic leukodystrophy

Findings
Central and peripheral demyelination with ataxia, dementia
Mucopolysaccharidoses
Hurler's syndrome and Hunter's syndrome
Hurler's syndrome

Deficient enzyme
alpha-L-iduronidase
Hurler's syndrome

accumulated substrate
heparan sulfate, dermatan sulfate
Hurler's syndrome

Findings
developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Hunter's syndrome

Deficient enzyme
Mucopolysaccharidoses

iduronate sulfatase
Hunter's syndrome

Accumulated substrate
heparan sulfate, dermatan sulfate
Hunter's syndrome

Findings
XR!!!

mild-Hurler's (developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly) with aggressive behavior, NO corneal clouding