Hawkinsinuria
Hawkinsinuria
Definition
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-alpha-hydroxyphenylpyruvate hydroxylase deficiency, 4-HPPD deficiency, 4-hydroxyphenylpyruvic acid dioxygenase deficiency, hawkinsinuria — per MONDO