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Beta-ureidopropionase deficiency

Disease definition

Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).

ORPHA:65287

  • Synonym(s):
    • Beta-alanine synthase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E79.8
  • OMIM: 613161
  • UMLS: C1291512
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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