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BETA-AMINOISOBUTYRIC ACIDURIA (BAIBA)

BETA-AMINOISOBUTYRIC ACIDURIA (BAIBA)
BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF BAIB URINARY EXCRETION
210100
OMIM = Online Mendelian Inheritance of Men
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Alanine--glyoxylate aminotransferase 2, mitochondrial
5p13.2
rare
autosomal recessive
variation in the AGXT2 gene
Laboratory findings    3-Aminoisobutyric acid inc (urine)
Symptoms    no clinical symptoms (probably)
    onset, infancy
    onset, neonatal