Step 1 in 2 q - lsa

[ArchivalUser]

A 6 month old brought by mother with coplaint of listlessness and irritability.He can't crawl or roll over w? he used to do few weeks back.On P/E hypotonia,hepatosplenomegaly,cervical lymph adenopathy,protruding belly and chery red macula.Def of....
A- galactocerebrosidase
B-glucocerebrosidase
C-sphingomyelinase
D-Hexosaminidase
E-None

[ArchivalUser]

Taysachs? Hexosaminidase def?

[ArchivalUser]

jmo I picked that too....but if you didn't do Uw...just wait.

[ArchivalUser]

Niemman Pick disease shingomielinase C

[ArchivalUser]

C.

[ArchivalUser]

Oh crap yea I remmember it now, it was Sphingomyelinase deficiency.

[ArchivalUser]

Yes the ans is c.No HSM and LAP in Tay sach's ds.