Term
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Definition
Type I- Defective Glucose 6-Phosphatase
-SEVERE HYPOGLYCEMIA
-MASSIVE LIVER ENLARGEMENT |
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Term
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Definition
Type III- Defective DEBRANCHING ENZYME
Amylo-1,6-glucosidase
-Milder Hypoglycemia and liver enlargement |
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Term
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Definition
Type IV- Defective BRANCHING ENZYME
-Progressive Cirrhosis, death before age 2 |
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Term
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Definition
Type VII- Defective Phosphofructokinase
-inability to convert G-6-P to Pyruvate in muscle
-Hypoglycemia- increased glycogen |
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Term
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Definition
Type V- Defective Phosphorylase
-inability to convert G-1-P to G-6-P in muscle
-Limited ability to perform strenuous exercise due to cramps |
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Term
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Definition
-missing manose-6-phosphate on lysosomal proteins-
-digestive enzymes get secreted instead of sequestered
-lysosomes enlarge and crowd the cytoplasm
-defect is in phosphotransferase |
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Term
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Definition
-defective Hexosaminidase A which digests GalNAc
-defect of sugar metabolism
-problem is with digestive enzymes in lysozome
-cant break down GalNAc: Gal Gm1 Ganglioside |
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Term
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Definition
-defect of Alpha Galactosidase
-lysosomal storage/accumulation of lipids
-can't break down globotriaosylceramide |
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Term
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Definition
-defect in Beta Glucosidase-
-lysosomal storage/accumulation of lipids
-can't break down glucosylceramide |
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Term
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Definition
-defect of SPHINGOMYELINASE
-lysosomal storage/accumulation of lipids
-Can't break down sphingomyelin |
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Term
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Definition
Type VI- defective liver glycogen phosphorylase-
-hepatomegaly and mild hypoglycemia |
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Term
| Maple Syrup Urine Disease |
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Definition
-Deficiency in Alpha Keto Dehydrogenase
-accelerated by Thiamine deficiency
-distinctive odor
-accumulation of Alpha Ketoacids leading to Ketoacidosis, mental retardation, death |
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Term
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Definition
| Glucose-6-phosphate Dehydrogenase deficiency |
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Term
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Definition
-defective transporter of essential neutral amino acids in intestine and kidney
-poor absorption of AAs
-photosensitivity
-ataxia, neuropsych symptoms |
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