Defective SLC5A2 causes renal glucosuria (GLYS1)

RPIA deficiency: failed conversion of R5P to RU5P

Defective ABCB4 causes PFIC3, ICP3 and GBD1

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

RPIA deficiency: failed conversion of RU5P to R5P

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

Defective GGT1 in aflatoxin detoxification causes GLUTH

Defective Base Excision Repair Associated with OGG1

Defective ADA disrupts (deoxy)adenosine deamination

Defective PNP disrupts phosphorolysis of (deoxy)guanosine and (deoxy)inosine

Reactions specific to the hybrid N-glycan synthesis pathway

Defective regulation of TLR7 by endogenous ligand