CH9: Metabolic Disorders Flashcards
1
Q
The third major defect in the phenylalanine-tyrosine pathway?
A
Alkaptonuria
2
Q
Enzyme deficient in PKU?
A
Phenylalanine hydroxylase
3
Q
Deficient enzyme in type 1 tyrosinemia?
A
Fumarylacetoacetate hydrolase (FAH)
4
Q
Tyrosine aminotransferase is deficient in?
A
Type 2 tyrosinemia
5
Q
Deficient enzyme in type 3 tyrosinemia?
A
p-hydroxyphenylpyruvic acid dioxygenase
6
Q
Refers to the disruption of the normal metabolic pathway which leads to increased nonmetabolized substances
A
Overflow disorders
7
Q
Malfunctions in the tubular reabsorption mechanism
A
Renal disorders
8
Q
Most well-known aminoaciduria
A
Phenylketonuria (PKU)
