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Summary
BETA-AMINOISOBUTYRIC ACIDURIA (BAIBA)
BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF BAIB URINARY EXCRETION
210100
OMIM = Online Medalian Inheritance of Men
5p13.2
rare
autosomal recessive
variation in the AGXT2 gene
symptoms
no consistent clinical signs or symptoms
onset, infancy
onset, neonatal
laboratory finding
3-Aminoisobutyric acid400.002000.00 mmol/mol Creaurine
Literature