What is Hyper-beta-alaninemia?

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.

Other condition names

  • Hyperalaninemia


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
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