AMINO ACID METABOLISM DISORDER Flashcards
1
Q
Maple Syrup Urine
Disease (MSUD)
A
Branched Chain Keto-acid
Dehydrogenase
2
Q
Phenylketonuria
PKU
A
Phenylalanine Hydroxylase
3
Q
Alkaptonuria
A
Homogentisic Acid Oxidase
4
Q
Albinism
A
Melanocyte Tyrosinase
5
Q
Homocystinuria
A
Cystathionine Synthase or
Methionine Synthase
6
Q
Hyperammonemia
A
Any enzyme in the
Urea Cycle
7
Q
Hyperammonemia
A
Any enzyme in the
Urea Cycle