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 |
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rare autosomal recessive variation in the AGXT2 gene | |
Laboratory findings | 3-Aminoisobutyric acid inc (urine) |
Symptoms | no clinical symptoms (probably) onset, infancy onset, neonatal |