Get in touch with RARE Concierge.

Contact RARE Concierge


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 October 2023.

Newly diagnosed with

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

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).

Clinical Trials

For a list of clinical trials in this disease area, please click here.