1.01.d

Disorders of phenylalanine and tyrosine metabolism

Phenylalanine hydroxylase deficiency (Phenylketonuria)
Tyrosinase deficiency (Oculocutaneous albinism type 1)
Tyrosine aminotransferase deficiency (Tyrosinemia type 2; Richner-Hanhart syndrome)
4-hydroxyphenylpyruvate dioxygenase deficiency (Tyrosinemia type 3)
Hawkinsinuria (Tyrosinemia type 3)
Homogentisic acid oxidase deficiency (Alkaptonuria)
Maleylacetoacetate isomerase deficiency (Benign hypersuccinylacetonemia)
Fumarylacetoacetase deficiency (Tyrosinemia type 1)

Aminoacid and organic acids related disorders