The diagnosis of<unk>  can be done by full blood counts (differential blood counts) and reticulocyte counts. Other methods include direct enzyme assays, which can determine pyruvate<unk>  levels in erythrocytes separated by density centrifugation, as well as direct DNA sequencing. For the most part when dealing with<unk> , these two diagnostic techniques are complementary to each other as they both contain their own flaws. Direct enzyme assays can diagnose the disorder and molecular testing confirms the diagnosis or vice versa. Furthermore, tests to determine bile salts (bilirubin) can be used to see whether the gall bladder has been compromised.
Pyruvate kinase deficiency
Glucose-6-phosphate dehydrogenase deficiency
Glutaminase deficiency
Malonyl-CoA decarboxylase deficiency
Pyruvate carboxylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
2,4 Dienoyl-CoA reductase deficiency
Hexokinase deficiency