Orphanet: Hawkinsinuria

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image


Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • 4-HPPD deficiency
    • 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
    • 4-hydroxyphenylpyruvic acid dioxygenase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.2
  • OMIM: 140350
  • UMLS: C2931042
  • MeSH: C535845
  • GARD: 5668
  • MedDRA: -
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.