4. Spingolipidoses Flashcards
deficiency of
hexosaminidase A
Tay-sachs disease
deficiency of
spingomyelinase
Nieman-Pick disease
deficiency of
ß glucosidase
Gaucher disease
deficiency of
α-galactosidase
fabry disease
deficiency of
Arylsulfatase A
Metachromatic leukodystrophy
deficiency of
ß-galactosidase
Krabbe disease
deficiency of
ceramidase
Farber disease
lipid accumulating
Farber disease
ceramide
lipid accumulating
Krabbe
galactosylceramide
lipid accumulating
metachromatic leukodystrophy
3-sulfogalactosylceramide
lipid accumulating
fabry
globotriaosylceramide
lipid accumulating
gaucher
glucosylceramide
lipid accumulating
sphingomyelin
Niemann-Pick
lipid accumulating
Tay-Sachs
GM2 ganglioside
- NO HEPATOSPLENOMEGALY
- mental retardation
- cherry red spot on macula
Tay sachs
•lysosomes with onion skin
Tay sachs
Taylor swift may onion skin
- HEPATOSPLENOMEGALY
- mental retardation
- cherry red spot on macula
Nieman-Pick disease
Seen in ashkenazi jews
Tay sachs
(+) foam cells from accumulation of sphingomyelin
Nieman-Pick
most common lysosomal storage disease
Gaucher disease
- MR (mental retardation)
- erosion of long bones
- hepatosplenomegaly
Gaucher disease
macophages that resemble
crumpled tissue paper
Gaucher disease
•called gaucher cells
- reddish purple skin rash
- kidney and HF
- X-linked recessive disease (full symptoms only in males)
Fabry
- sulfatides form granules that are metachromatic
* nerves stain yellowish-brown
metachromatic leukodystrophy
