Term
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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 |
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Term
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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 |
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Term
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Definition
Deficient enzyme: Debranching enzyme (muscle and liver)
Glycogen Structure: Many short branched chains
Clinical: Mild hypoglycemia, hepatomegaly |
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Term
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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 |
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Term
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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 |
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Term
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Definition
Alpha-L-iduronidase deficiency;
Heparan sulfate and dermatan sulfate accumulate; gargoylism, clouded corneas, airway obsturction, HSM |
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Term
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Definition
| Iduronate sulfatase deficiency; mild hurler's with aggressive behavior; X linked recessive |
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Term
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Definition
| Xlinked recessive; alpha-galactosidase deficiency -- accumulation of ceramide trihexose; peripheral neuropathy, angiokeratomas, CV/renal disease, reddish-purple skin rash |
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Term
| Gaucher's Disease (most common Lysosomal storage disease) |
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Definition
| B-glucosidase def; accum of cerebrosides; HSM, macrophage accum in liver, spleen, bone marrow (crinkled appearing macrophages), Can live! |
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Term
| Metachromatic Leukodystrophy |
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Definition
| Arylsulfatase def; accum of sulfatides; Mental retardation, developmental delay, abnormal myelin, peripheral neuropathy |
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Term
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Definition
| Sphingomyelinase def; Accum of Sphingomyelin; HSM, mental retardation, "bubbly" macrophages, cherry-red macular spot |
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Term
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Definition
| Hexosaminidase A def; Accumulation of GM2 gangliosides; muscle weakness and flacidity, blindness, cherry-red macular spot |
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