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Hyper-beta-alaninemia

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 encephalopathy. 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.

ORPHA:309147

Classification level: Disorder
  • Synonym(s):
    • Hyperalaninemia
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: E79.8
  • ICD-11: 5C55.1
  • OMIM: 237400
  • UMLS: C0268630
  • MeSH: -
  • GARD: 10267
  • MedDRA: -

  A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

Additional information

Further information on this disease

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Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.