Sphingolipid Catabolism Disorders

Question 1

Fabry’s

Answer 1

alpha-galactosidase def (X-linked rec)
ceramide trihexose accum

peripheral neuropathy (hands, feet), angiokeratomas, cardiovasc/renal disease

Question 2

Gaucher’s

Answer 2

glucocerebrosidase def (autosomal rec) - Ashkenazi Jews
glucocerebroside accum

hepatosplenomegaly, necrosis of femur, CRUMPLED TISSUE PAPER macrophages

Question 3

Neimann-Pick

Answer 3

sphingomyelinase def (AR) - Ashkenazi Jews
sphingomyelin accum

progressive neurodegeneration, hepatosplenomegaly, CHERRY RED MACULA, FOAM CELLS

Question 4

Tay-Sachs

Answer 4

hexosaminidase A def (AR) - Ashkenazi Jews
GM2 ganglioside accum

progressive neurodegen, develop delay, CHERRY RED MACULA, ONION SKIN LYSOSOME, no hepatosplenomegaly (diff with Neimann-Pick)

Question 5

Krabbe’s

Answer 5

Beta-galactocerebrosidase def (AR)
galactocerebroside accum

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

Question 6

Hurler’s

Answer 6

alpha-L-idurobidase def (AR)
heparin sufate, dermatan sulfate accum

developmental delay, gargoylism, CORNEAL CLOUDING, hepatosplenomegaly

Question 7

Hunter’s

Answer 7

iduronate sulfatase def (X-linked recessive)
heparin sulfate, dermatan sulfate accum

symptoms Hurler’s + aggressive behavior
NO corneal clouding

Question 8

Inheritance pattern?

Answer 8

all autosomal recessive

EXCEPT Fabry’s and Hunter’s (X-linked recessive)