| Metadata | |
|---|---|
| ID | DOID:0111362 |
| Name | hawkinsinuria |
| 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:403001 |
| Subsets |
DO_rare_slim |
| Synonyms |
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency [EXACT] 4-HPPD deficiency [EXACT] 4-hydroxyphenylpyruvic acid dioxygenase deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |