OBO ID: DOID:0111362
Term Name: hawkinsinuria Search Ontology:
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:
Ontology: Human Disease   ( DOID:0111362 )
Relationships
is a type of:
OTHER hawkinsinuria PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HPD Hawkinsinuria 140350
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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