Mutations in transaldolase 1 (TALDO1), an enzyme of the pentose phosphate pathway that normally mediates the reversible interconversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to form D-fructose 6-phosphate and D-erythrose 4-phosphate, have been associated with congenital liver disease (Wamelink et al. 2008).
Wamelink, MM, Struys, EA, Jakobs, C
© 2023 Reactome
