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10 terms

Lysosomal Storage Diseases

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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.