Glycogen Storge Disease Flashcards
1
Q
Renal and neuro and angiokeratomas
A
Fabry
Alfa galctosidase
2
Q
Macular Cherry red spot and nuro no hepatosplenomegally
A
Tay Sachs
B hexoaminase A
GM2
3
Q
Macular cherry red spot and nuro with hepatosplenomegally
A
Nemain pick
Sphingomylainase
4
Q
Hepatosplenomegally bone pain
Pancytopenia
A
Gaucher
B glucocerbrosideas
Wrinkle tissue paper
نشوف خلايا مثل ورق الكلينس بعينه من نخاع ولهذا هو يوجع العظم ويمحي خلايا الدم
5
Q
Neurons and peripheral neuropathy and optic n
A
Krabbe
6
Q
Type of mutation in tay Sachs disease
A
Frame shift mutation add 4 nulutide lead to premature stop codon of hexoaminas enzyme
