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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