Meta-Biol

• Pathways

Defective TALDO1 (transaldolase 1) fails to transform sedoheptulose 7-phosphate (SH7P) and glyceraldehyde 3-phosphate (GA3P) to fructose 6-phosphate (Fru(6)P) and erythrose 4-phosphate (E4P). This defect has been associated with congenital liver disease and an array of other symptoms. The deficiency was first described by Verhoeven and colleagues (2001). Both the range and severity of these abnormalities are variable from patient to patient (Wamelink et al. 2008a; Eyaid et al. 2013). The three missense mutant alleles annotated here are associated with absence of detectable transaldolase activity in tissues from homozygous affected individuals (LeDuc et al. 2014; Verhoeven et al. 2005; Wamelink et al. 2008b).