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Cause of LSDs

deficiency of one lysosomal enzyme

Muchopolysaccharidoses (MPS)

Glycosaminoglycans (GAGs) - hunter, hurler, Sanfilippo, Sly


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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