LSD Flashcards
1
Q
Fabry
A
accumulation of Globosides
lower limb pain
2
Q
Tay-Sachs
A
defect in alpha subunit of B-Hexosaminidase A
accum of Gangliosides
red macula in eyes
3
Q
Sandhoff Disease
A
globoside degradation
deficiency in hexoaminidase A and B, defect in Beta subunit
worse if both
4
Q
Mucopolysaccharaidoses (MPS)
A
defects in degradation of heparan sulfate
presence of oligosaccharides in urine
degradation of dermatan sulfate and heparin sulfate affected
enlarged spleen and heart
5
Q
Hurler
A
Alpha-Iduronidase deficiency
Corneal clouding
6
Q
Hunter
A
Iduronate sulfatase deficiency
no corneal clouding
