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Hawkinsinuria

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.

ORPHA:2118

  • 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: -

Additional information

Further information on this disease

Specialised Social Services

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