hawkinsinuria (DOID:0111362)
Alliance: disease page
Synonyms: 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency; 4-HPPD deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency
Alt IDs: OMIM:140350, MESH:C535845, ORDO:2118, UMLS_CUI:C2931042
Definition: 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.