TALDO1 and transaldolase deficiency: Transaldolase deficiency (TAL or TALDO deficiency, OMIM: 606003) is caused by autosomal recessive deficiency in the human TAL-encoding gene (TALDO1) located on chromosome 11p15.5–p15.4, and has recently been diagnosed in more than 30 patients worldwide (Wamelink et al., 2007; Wamelink et al., 2008a; Tylki-Szymańska et al., 2009; Balasubramaniam et al., 2011; Eyaid et al., 2013).