Sphingolipidoses Flashcards
Enzyme deficiency
Hexosaminidase A
Tay Sach
Enzyme deficiency
Sphingomyelinase
Niemann pick
Enzyme deficiency
Gaucher dse
B glucosidase
Enzyme deficiency
Fabry dse
a galactosidase
Enzyme deficiency
Metachromatic leukodystrophy
Arylsulfatase A
Enzyme deficiency
Krabbe dse
B galactosidase
Enzyme deficiency
Farber dse
Cermidase
Lipid accumulating
Taysach
GM2 ganglioside
Lipid accumulating
Niemann pick
Sphingomyelin
Lipid accumulating
Glucosylceramide
Gaucher
Lipid accumulating
Fabry dse
Globotriaosylceramide
Lipid accumulating
Metachromatic leukodrytrophy
3 sulfogalactosylceramide
Lipid accumulating
Krabbe dse
Galactosylceramide
Lipid accumulating
Farber dse
Ceramide
Mental retardation
Cherry red spot on macula
NO hepatosplenomegaly
Patho: lysosomes with onion skin
Ashkenazi jews
Tay sachs
Metal retardation
Cherry red spot macula
Hepatosplenomegaly
Patho: foam cells
Niemann pick
Most common lsd
Gaucher
Mental retardation
Erosion of long bones
Hepatosplenomegaly
Patho: Gaucher cells (macrophages that resemble crumpled tissue paper)
Gaucher
Crumpled tissue-like macrophages
Gaucher
Reddish purple skinradh
Kidney and heart failure
X linked recessive
Full sx only in males
Fabry
Progressive paralysis
Cognitive decline, demyelination
Metachromatic leukodystrophy
Sulfatides form granules that are metachromatic
Nerves stain yellow brown
Metachromatic leukodystrophy
Loss of myelin leading to muscle weakness Feeding fifficulties Vision loss Seizures Mental retardation
Krabbe
Lipids accumulate in joints (painful joint deformity) with tissue granulomas and subcutaneous nodules
Hoarse cry
Mental retardation
Early death
Farber
All LSD are autosomal recessive except
Fabry
Xlinked recessive
