IEM Flashcards
1
Q
Phenylketonuria
A
Phenylalanine hydroxylase
2
Q
MSUD
A
Branched-chain alpha-keto acid dehydrogenase
3
Q
Albinism
A
Tyrosinase
4
Q
Homocystinuria
A
Cystathione beta-synthase
5
Q
Alkaptonuria
A
Homogenistic acid oxidase
arthralgia
6
Q
Cystinuria
A
cystine, ornithine, lysine, arginine
7
Q
Lesch-Nyhan syndrome
A
HGPRT