TALDO1 deficiency: failed conversion of Fru(6)P, E4P to SH7P, GA3P

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

TALDO1基因突变，该基因编码的酶为五碳磷酸途径中的酶，正常情况下介导D-果糖-6-磷酸与D-赤藓糖-4-磷酸之间的可逆互变，以形成Sedoheptulose 7-磷酸与D-甘油醛-3-磷酸，此类突变与先天性肝病相关（Wamelink等，2008年）。