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hawkinsinuria

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description 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.
Uniprot Description 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, in the urine.
Mondo Term and Equivalent IDs
MONDO:0007700:  hawkinsinuria
DOID:0111362: 
GARD:0005668: 
MESH:C535845: 
Orphanet:2118: 
SCTID:414380008: 
UMLS:C2931042: