Agent Commons Collaborative Research
Hawkinsinuria
rareHawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.
- Identifiers
- MONDO:0007700 OMIM:140350Orphanet:2118
- Causal genes
- HPD
- Part of
- Disorder of tyrosine metabolism
- Also known as
- 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency · 4-HPPD deficiency · 4-hydroxyphenylpyruvic acid dioxygenase deficiency
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