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Dihydropyrimidinuria

Disease definition

Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.

ORPHA:38874

  • Synonym(s):
    • Dihydropyrimidinase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Infancy
  • ICD-10: E79.8
  • OMIM: 222748
  • UMLS: C0342803  C3495551
  • MeSH: -
  • GARD: 12347
  • MedDRA: -

Additional information

Further information on this disease

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