Human genes for hawkinsinuria
Hawkinsinuria [DOID:0111362]
An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31.
Synonyms: hawkinsinuria, DOID:0111362, hawkinsinurias, 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency, 4-HPPD deficiency ...