“…The GLDC mutations reported to date include the S564I mutation that is prevalent in Finnish patients , the R515S mutation found in 5% of Caucasian patients [Toone et al, 2000], microdeletions , large deletions [Takayanagi et al, 2000;Sellner et al, 2005], one abnormal splicing [Flusser et al, 2005], one nonsense mutation [Sellner et al, 2005], and 10 missense mutations [Toone et al, 2002;Korman et al, 2004;Kure et al, 2004;Boneh et al, 2005;Dinopoulos et al, 2005]. The AMT gene (MIM] 238310) mutations identified to date include nine missense mutations [Nanao et al, 1994[Nanao et al, , 1994aKure et al, 1998;Toone et al, 2000Toone et al, , 2001Toone et al, , 2003], one microdeletion [Kure et al, 1998[Kure et al, , 1998b, and one splicing mutation [Toone et al, 2000].…”