| Disease | Enzyme/Transporter Defect | Main clinical features |
| GSD III (Cori-Forbes) | Amylo-1,6 glucosidase (debranching enzyme) | (distal) muscle weakness, cardiomyopathy, hepatomegaly, hypoglycaemia, growth retardation; osteoporosis, liver cirrhosis, hepatocellular carcinoma (later phase) |
| GSD V (Mc Ardle) | Muscle phosphorylase | Muscle pain (exercise-induced), myoglobinuria |
| GSD VII (Tarui) | Muscle phosphofructokinase | Muscle pain (+ vomiting, nausea), anaemia |
| CPT2-deficiency | Carnitine palmitoyl transferase 2 | Muscle weakness, cardiomyopathy, hepatomegaly, hypoglycaemia, seizures |
| MTP (Mitochondrial trifunctional protein) | LCHAD, thiolase, enoyl-CoA hydratase | Sudden death, “Reye-like” syndrome, respiratory dysfunction, capilliary leak syndrome, myopathy, myoglobinuria, cardiomyopathy, peripheral neuropathy, retinopathy |
| VLCAD-deficiency | VLCAD | Cardiomyopathy, muscle weakness, myoglobinuria, hypoglycaemia, liver failure |
| MAD-deficiency (Glutaric aciduria type II) | Electron transfer flavoprotein, electron transfer flavoprotein dehydrogenase | Muscle weakness, cardiomyopathy, hypoglycaemia, respiratory dysfunction, encephalopathy |
| CT-deficiency | Carnitine transporter | SIDS, “Reye-like” syndrome, encephalopathy, muscle hypotonia, myalgia (later), psychomotor delay, dilatative cardiomyopathy. arrythmias, ventricular fibrillations |
| Respiratory chain defects | Respiratory chain complexes I–V (single or combined) | Multisystem-disease (e.g., myopathy, cardiomyopathy, hepatopathy, epilepsy, developmental delay, mental retardation, etc.) |
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