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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
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Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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