Orphanet: Hyper beta alaninemia

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Disease definition

A rare, genetic disorder of pyrimidine metabolism characterized by increased serum beta-alanine levels and severe phenotype including hypotonia, malaise, seizures, respiratory distress, lethargy and encephalopahty. Urinary excretion of beta-alanine, beta-amino-isobutyric acid, taurine, and gamma-amino-butyric acid is also elevated. There have been no further descriptions in the literature since 1994.


Classification level: Disorder
  • Synonym(s):
    • Hyperalaninemia
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: E79.8
  • OMIM: 237400
  • UMLS: C0268630
  • MeSH: -
  • GARD: 10267
  • MedDRA: -
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