GALT and galactosemia: To date, nearly 360 pathogenic variants affecting the GALT gene have been described in galactosemia patients, the vast majority of which (69%) are missense variants, while 22.4% are loss-of-function variants (nonsense alterations, small deletions, small insertions, and gross rearrangements), and only 8.6% have been reported to cause or potentially cause impaired splicing (HGMD Professional) [8].