Diagnosis is made by measurement of FDPase in cultured lymphocytes and confirmed by detection of mutation of FBP1, encoding FDPase.
Fructose bisphosphatase deficiency
Malonyl-CoA decarboxylase deficiency
Triosephosphate isomerase deficiency
Pyruvate kinase deficiency
Glutaminase deficiency
Enolase deficiency
Ribose-5-phosphate isomerase deficiency
Aldolase A deficiency