biochem kap q2 - genius123

[ArchivalUser]

The parents of 6 month old child who was normal at birth bring her into clinic.Since thier emigration to US from eastern Europe soon after birth,child develop diminsh responsiveness ,progressive blindness and deafness and recently siezures.Serum level of which of the following compounds would be expected to be decreased in both of the parents?

A.Dystrophin
B.Hexoaminidase A
C.HGPRT
D.Phenylalanine hydroxylase
E.Vit D3

[ArchivalUser]

Hexosaminosidase def...Taysachs?

[ArchivalUser]

tay sach's,

[ArchivalUser]

bbb

[ArchivalUser]

ANS=B
pt has tay sachs ds.children appear normal at birth ,but begin to develop diminsh responsiveness ,progressive blindness , deafness loss of neurologic function and siezures.Cherry red spot on macula may be seen.

deficiency of phenyalanine hydroxylase results in phenylketonuria.clinically there is musty odor and mental retardation.

[ArchivalUser]

thanks