Term Name: | hawkinsinuria |
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Synonyms: | 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency, 4-HPPD deficiency, 4-hydroxyphenylpyruvic acid dioxygenase deficiency |
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. |
Ontology: | Human Disease [DOID:0111362] ( DOID:0111362 ) |