hawkinsinuria
Hawkinsinuria 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. [ ]
Term info
hawkinsinuria
- 4-HPPD deficiency
- 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
- 4-hydroxyphenylpyruvic acid dioxygenase deficiency
- hawkinsinuria
gard_rare, ordo_disease
http://identifiers.org/snomedct/414380008, http://purl.obolibrary.org/obo/Orphanet_2118, http://purl.obolibrary.org/obo/DOID_0111362, http://identifiers.org/mesh/C535845, https://omim.org/entry/140350, http://linkedlifedata.com/resource/umls/id/C2931042
MONDO:0007700
https://icd.codes/icd10cm/E70.2
https://rarediseases.info.nih.gov/diseases/5668/hawkinsinuria