Hawkinsinuria
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 April 2024
Newly diagnosed with
Hawkinsinuria?
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Advocacy Organizations
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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