Table 2.
Description of metabolic myopathies related to defects in the carnitine-based shuttling, mitochondrial beta-oxidation or the storage of the lipid in the muscle cell considered in this systematic review
| Gene | Enzymatic deficiency | OMIM | Affected Process | Key clinical symptoms with HPO term identifier |
| ACADVL | Very long-chain Acyl-CoA dehydrogenase | 609575 | Beta-oxidation | Hypoglycemia (0001985), Hepatomegaly (0002240), Cardiomyopathy (0001638), Exercise-induced rhabdomyolysis (0009045) |
| HADHA | Long-chain 3-hydroxyAcyl-CoA dehydrogenase | 609016 | Beta-oxidation | Hypoglycemia (0001985), Hepatomegaly (0002240), Cardiomyopathy (0001638), Exercise-induced rhabdomyolysis (0009045) |
| HADHA, HADHB | Either alpha or beta subunits of the mitochondrial trifunctional protein (trifunctional protein deficiency) | 609015 | Beta-oxidation | Hypoglycemia (0001985), Hepatomegaly (0002240), Cardiomyopathy (0001638), Exercise-induced rhabdomyolysis (0009045) |
| ETFA, ETFB, ETFDH | Multiple Acyl-CoA dehydrogenase | 231680 | Beta-oxidation | Hypoglycemia (0001985), Hepatomegaly (0002240), Cardiomyopathy (0001638), Muscle weakness (0001324) |
| ACADS | Short-chain Acyl-CoA dehydrogenase | 201470 | Beta-oxidation | Hypotonia (0001290), Muscle weakness (0001324), Failure to thrive (0001508) |
| SLC22A5 | ORGANIC CATION TRANSPORTER (Systemic primary carnitine deficiency) | 603377 | Carnitine-based transport | Hypoglycemia (0001985), Hepatomegaly (0002240), Cardiomyopathy (0001638), Exercise-induced rhabdomyolysis (0009045) |
| SLC25A20 | Carnitine/acylcarnitine translocase | 613698 | Carnitine-based transport | Hypoglycemia (0001985), Hepatomegaly (0002240), Cardiomyopathy (0001638) |
| CPT2 | Carnitine palmitoyltransferase 2 | 255110 | Carnitine-based transport | Hypoglycemia (0001985), Hepatomegaly (0002240), Cardiomyopathy (0001638), Exercise-induced rhabdomyolysis (0009045) |
| CPT1A | Carnitine palmitoyltransferase 1A | 600528 | Carnitine-based transport | Hepatomegaly (0002240), Cardiomyopathy (0001638), Hypoglycemia (0001985) |
| LPIN1 | Lipin-1 deficiency | 268200 | Triglyceride and phospholipid biosynthesis | Exercise-induced rhabdomyolysis (0009045), Myalgia (0003326) |
| ABHD5 | Acyltransferase (Chanarin-Dorfman syndrome/neutral lipid storage disease with ichthyosis) | 604780 | Triglyceride metabolism | Congenital ichthyosiform erythroderma (0007479), Muscle weakness (0001324), Hepatomegaly (0002240) |
| PNPLA2 | Triglyceride lipase | 610717 | Triglyceride metabolism | Hepatomegaly (0002240), Myopathy (0003198) |