Dihydropyrimidinuria

Orpha code: 38874OMIM code: 222748

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.

Disease data
Classification

Disease

Synonyms
Dihydropyrimidinase deficiency
Niedobór dihydropirymidynazy
ORPHA code
38874
OMIM code
222748
ICD10 code
E79.8
ICD11 code
-

No additional description.

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