Hawkinsinuria

MONDO:0007700

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.

Also known as: 4-HPPD deficiency, 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency, 4-hydroxyphenylpyruvic acid dioxygenase deficiency, hawkinsinuria

0 clinical trials for this condition and its sub-types, 0 tagged with Hawkinsinuria itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Disorder of tyrosine metabolism (8)

Including sub-types (0) Tagged with Hawkinsinuria (0)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.