1st relationship between genes and enzymes
studied Inborn Errors of Metabolism
Alkaptonuria
Phenylalanine > phenylalanine hydroxylase
Tyrosine
P hydroxypyruvate
Homogentisic Acid (HA) > HA oxidase
no HA oxidase > accumulation of HA > alkapton = oxidized HA
Maleylacetoacetic Acid
H2O + CO2
Phenylketonuria
Phenylalanine > phenylalanine hydroxylase
no phenylalanine hydroxylase > no tyrosine
Albinism
Phenylalanine > phenylalanine hydroxylase
Tyrosine > tyrosinase
3,4 dihydroxy phenylalanine > tyrosinase
Melanin