Hyper-beta-alaninemia
ORPHA:309147· ICD-10 E79.8
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.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal