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Glycogen and Lysosomal Storage Diseases
USMLE Step 1
12
Medical
Graduate
05/18/2009

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Cards

Term
Von Gierke's
Definition
Deficient enzyme: Glucose-6-phosphatase (liver and kidney)
Glycogen Structure: Normal
Clinical:Severe fasting hypoglycemia (can 't make free glucose from G6P), ketosis, hyperlipidemia, lactic acidosis, enlarged liver and kidneys
Term
Pompe's Disease
Definition
Deficient enzyme: Lysosomal alpha-1,4-glucosiase
Glycogen Structure: Normal
Clinical: Infants get mental retardatioon, hypotonia, cardiomegaly, death by 2 yrs; Adults get gradual skeletal myopathy
Term
Cori's
Definition
Deficient enzyme: Debranching enzyme (muscle and liver)
Glycogen Structure: Many short branched chains
Clinical: Mild hypoglycemia, hepatomegaly
Term
McArdle's
Definition
Deficient enzyme: Skeletal muscle glycogen phosphorylase
Glycogen Structure: Normal
Clinical: Muscle Cramping, fatigue, myoglobinuria with strenuous exercise; no increase in lactic acid after exercisse
Term
I-cell Disease
Definition
Failure of addition of mannose-6-p to lysosomal proteins (target molecule) so enzymes secreted to outside cell; Coarase facial features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes
Term
Hurler's syndrome
Definition
Alpha-L-iduronidase deficiency;
Heparan sulfate and dermatan sulfate accumulate; gargoylism, clouded corneas, airway obsturction, HSM
Term
Hunter's syndrome
Definition
Iduronate sulfatase deficiency; mild hurler's with aggressive behavior; X linked recessive
Term
Fabry's Disease
Definition
Xlinked recessive; alpha-galactosidase deficiency -- accumulation of ceramide trihexose; peripheral neuropathy, angiokeratomas, CV/renal disease, reddish-purple skin rash
Term
Gaucher's Disease (most common Lysosomal storage disease)
Definition
B-glucosidase def; accum of cerebrosides; HSM, macrophage accum in liver, spleen, bone marrow (crinkled appearing macrophages), Can live!
Term
Metachromatic Leukodystrophy
Definition
Arylsulfatase def; accum of sulfatides; Mental retardation, developmental delay, abnormal myelin, peripheral neuropathy
Term
Niemann-Pick Disease
Definition
Sphingomyelinase def; Accum of Sphingomyelin; HSM, mental retardation, "bubbly" macrophages, cherry-red macular spot
Term
Tay-Sachs Disease
Definition
Hexosaminidase A def; Accumulation of GM2 gangliosides; muscle weakness and flacidity, blindness, cherry-red macular spot
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