Proteins Flashcards
1
Q
Maple Syrup Disease
A
Alpha-Ketoacid Dehydrogenase Deficiency
2
Q
Affected AA in Methylmalonyl-CoA-Mutase Deficiency
A
Valine, Isoleucine, Threonine, Methionine
3
Q
Cystinuria
A
Defective transporters for Cystine, Ornithine, Lysine, and Arginine in PCT
4
Q
Homocystinuria
A
Decreased clearance of Methionine and Homocysteine
5
Q
Albinism
A
Decreased copper-dependent tyrosinase; defective tyrosine receptors
6
Q
Alkaptonuria
A
Homogentisate Oxidase Deficiency
7
Q
Phenylketonuria
A
Phenylalanine hydroxylase or Tetrahydrobiopterin deficiency