hawkinsinuria

Term ID

DOID:0111362

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. https://www.ncbi.nlm.nih.gov/pubmed/11073718

References

• GARD:5668
• MESH:C535845
• OMIM:140350
• ORDO:2118
• SNOMEDCT_US_2023_03_01:403001
• UMLS_CUI:C2931042

Ontology

Human Disease   ( DOID:0111362 )