Hyper-beta-alaninemia

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Synonyms: Hyperalaninemia

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Hyper-beta-alaninemia?

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