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Synonyms: 4-HPPD deficiency | 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency | 4-hydroxyphenylpyruvic acid dioxygenase deficiency

A rare 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Clinical Trials

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