Catalog

Hawkinsinuria

No MMS code

Link to WHO Definition

Hawkinsinuria – http://id.who.int/icd/entity/786595759

Hawkinsinuria is an inborn error of tyrosine metabolism characterised 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.