Lysosomal Storage Diseases
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10 terms
Terms | Definitions |
|---|---|
 Cause of LSDs | deficiency of one lysosomal enzyme |
| Muchopolysaccharidoses (MPS) | Glycosaminoglycans (GAGs) - hunter, hurler, Sanfilippo, Sly |
| Sphingolipidoses | defective degradation of sphingolipids, Tay-Sachs, gangliosidosis, Sandhoff's, Fabry, Gaucher's, Krabbe's, metachromatic leukodystrophy, Niemann-Pick, Farber |
| Hunter syndrome | MPS II - deficiency of IDURONATE SULFATASE - GAG's in the urine, no corneal clouding, X linked, noticeable after first year of life |
| Hurler Syndrome | MPS I - deficiency of IDURONIDASE - oligosaccharides in the urine, corneal clouding |
| Tay-Sachs' Disease | deficiency of HEXOAMINOSIDASE, cherry red macula, accumulation of GANGLIOSIDE with onion shell inclusions, infantile - no enzyme activity, muscle weakness, seizures, blindess, paralysis, death at 4-5. Late onset - some enzyme activity, muscle weakness and twitching |
| Fabry's disease | Deficiency of GALACTOSIDASE, accumulation of CERAMIDE TRIHEXOSIDE, reddish skin lesions (bathing trunk distribution, risk of kidney failure, heart failure, stroke |
| Gaucher's Disease | deficiency of GLUCOCEREBROSIDASE, accumulation of GLUCOCEREBROSIDES, crumpled tissue paper appearance of cytoplasm, severe infantile form can lead to mental retardation, adult form (99%) - no brain damage but severe hepatosplenomegaly and osteoporosis |
| Niemann-Pick Disease | deficiency of ACID SPHINGOMYELINASE (ASM), accumulation of SPHINGOMYELIN in types A (infantile-death) and B(visceral -early adulthood), low sphingomyelin in types C and D - CHERRY RED MACULA AS WELL |
| I-cell disease | rare, defective transport of several lysosomal enzyme into lysosomes, absence of the MANNOSE-6-P marker due to a deficiency of enzyme that performs that task, characteristics like MPS and Sphingolipidoses, no GAG's in the urine, death in first decade. |
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