Version May 2024
| Disorders of glycogenolysis |
| Myophosphorylase deficiency (McArdle disease) |
| Phosphorylase kinase deficiency |
| Disorders of glycolysis |
| Phosphofructokinase deficiency |
| Phosphoglycerate kinase deficiency |
| Phosphoglycerate mutase deficiency |
| Lactate dehydrogenase deficiency |
| Disorders of lipid metabolism |
| Carnitine palmitoyltransferase deficiency |
| Carnitine deficiency |
| Short-chain acyl-CoA dehydrogenase deficiency |
| Long-chain acyl-CoA dehydrogenase deficiency |
| Lipin-1 deficiency |
| Disorders of purine metabolism |
| Myoadenylate deaminase deficiency |
| Other defects |
| Malignant hyperthermia susceptibility caused by RYR1 gene mutations |
| Alpha-methylacyl-CoA racemase (AMACR) deficiency |
| Brody myopathy (Calcium adenosine triphosphatase deficiency) |
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