Term Name: hawkinsinuria
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 )

Relationships
is a type of: amino acid metabolic disorder autosomal dominant disease