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.
MONDO:0017307
disorder of tyrosine metabolism
is_a
4-HPPD deficiency
exact
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
exact
4-hydroxyphenylpyruvic acid dioxygenase deficiency
exact
hawkinsinuria
exact