Translations:Enzyme/98/en

Involvement in disease

Ribbon diagram of phenylalanine hydroxylase with bound cofactor, coenzyme and substrate

In phenylalanine hydroxylase over 300 different mutations throughout the structure cause phenylketonuria. Phenylalanine substrate and tetrahydrobiopterin coenzyme in black, and Fe²⁺ cofactor in yellow. (PDB: 1KW0​)

File:Autosomal recessive inheritance for affected enzyme.png

Hereditary defects in enzymes are generally inherited in an autosomal fashion because there are more non-X chromosomes than X-chromosomes, and a recessive fashion because the enzymes from the unaffected genes are generally sufficient to prevent symptoms in carriers.

See also: Genetic disorder