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Hawkinsinuria

Orpha number ORPHA2118
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 Neonatal/infancy
ICD-10
  • E70.2
OMIM
UMLS
  • C2931042
MeSH
  • C535845
MedDRA -
SNOMED CT
  • 414380008

Summary

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. The prevalence is unknown, but the disease appears to be very rare with only a small number of affected families reported in the literature. Symptoms manifest in infants fed on formula or cow's milk or after weaning from breast milk. The disorder is transmitted as an autosomal dominant trait and is caused by an A33T mutation in 4-hydroxyphenylpyruvic acid dioxygenase (4-HPPD), an enzyme that catalyses the conversion of hydroxyphenylpyruvate to homogentisate. The diagnosis is confirmed by detection of characteristic tyrosine metabolites by organic acid analysis of the urine. Patients are treated with ascorbic acid and a low-protein diet (in particular, restricted phenylalanine and tyrosine intake). On this diet, the patients grow normally and the metabolic acidosis resolves. The prognosis for hawkinsinuria patients is good: although patients continue to excrete hawkinsin in their urine, the symptoms improve significantly after the first year of life and the children appear to be asymptomatic by the time they reach late childhood.

Expert reviewer(s)

  • Pr Pascale DE LONLAY

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