<unk>  is due to a mutation in the PKLR gene. There are four<unk><unk>  isoenzymes, two of which are encoded by the PKLR gene (isoenzymes L and R, which are used in the liver and erythrocytes, respectively). Mutations in the PKLR gene therefore cause a deficiency in the<unk><unk>  enzyme. 180 different mutations have been found on the gene coding for the L and R isoenzymes, 124 of which are single-nucleotide missense mutations.<unk>  is most commonly an autosomal recessive trait. Although it is mostly homozygotes that demonstrate symptoms of the disorder, compound heterozygotes can also show clinical signs.
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