Genetics is found to be the cause of<unk> . The individual in the first known case of this deficiency was heterozygous for the gene for β-enolase, and carried two missense mutations, one inherited from each parent. His muscle cells synthesized two forms of β-enolase, each carrying a different mutation. These mutations changed glycine at position 374 to glutamate (G374E) and glycine at position 156 to aspartate (G156D).
Enolase deficiency
Glutaminase deficiency
Aldolase A deficiency
Transaldolase deficiency
Pyruvate kinase deficiency
Ornithine aminotransferase deficiency
Hexokinase deficiency
Malonyl-CoA decarboxylase deficiency