Table 1.
Fifty-eight monogenic causes of rhabdomyolysis. (The eight genes, in which mutations were found in this study are underlined.)
| Gene | MOI | Disease name | Reference (PMID) |
|---|---|---|---|
| 1) Disorders of fatty acid metabolism | |||
| ACADM | AR | Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency | (7876853) |
| ACADS | AR | Short-chain acyl-CoA dehydrogenase (SCAD) deficiency | (24946698, 16531950) |
| ACADVL | AR | Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency | (24263034, 8145917) |
| CPT2 | AR | Carnitine palmitoyltransferase II (CPT II) deficiency | (21314018, 15363638) |
| ETFA | AR | Multiple acyl-CoA dehydrogenase deficiency | (25200064) |
| ETFB | AR | Multiple acyl-CoA dehydrogenase deficiency | (25200064) |
| ETFDH | AR | Multiple acyl-CoA dehydrogenase deficiency | (25200064, 22041377) |
| SLC22A5 | AR | Primary carnitine deficiency | (24946698) |
| SLC25A20 | AR | Carnitine-acylcarnitine translocase deficiency | (24088670) |
| 2) Disorders of glycogen metabolism | |||
| ALDOA | AR | Glycogen storage disease type XII | (25392908) |
| ENO3 | AR | Glycogen storage disease type XIII | (25267339) |
| LDHA | AR | Glycogen storage disease type XI (also known as Lactate dehydrogenase deficiency) | (22127970) |
| PFKM | AR | Glycogen storage disease type VII (also known as Tarui disease) | (18421897) |
| PGAM2 | AR | Glycogen storage disease type X | (16881065, 19783439) |
| PGK1 | XLR | Phosphoglycerate kinase deficiency | (6830158, 7082849) |
| PGM1 | AR | Phosphoglucomutase 1 deficiency | (24499211) |
| PHKA1 | XLR | Glycogen storage disease type IX | (12825073, 9731190) |
| PHKB | AR | Glycogen storage disease type IX | (25929793) |
| PYGM | AR | Glycogen storage disease type V (also known as McArdle disease) | (18833216, 25293680) |
| 3) Mitochondrial disorders | |||
| ACAD9 | AR | Mitochondrial complex I deficiency due to acyl-CoA dehydrogenase 9 deficiency | (17564966) |
| BCS1L | AR | Mitochondrial complex III deficiency | (11528392) |
| DGUOK | AR | Deoxyguanosine kinase deficiency | (23043144) |
| DLD | AR | Dihydrolipoamide dehydrogenase deficiency (also known as Maple syrup urine disease type 3) | (9040667) |
| FDX1L | AR | Mitochondrial myopathy | (24281368) |
| HADHA | AR | Mitochondrial trifunctional protein deficiency | (9739053, 21549624) |
| HADHB | AR | Mitochondrial trifunctional protein deficiency | (12754706) |
| ISCU | AR | Myopathy with deficiency of iron-sulfur cluster assembly enzyme | (20206689) |
| POLG | AD/AR | POLG-related mitochondrial diseases | (23873972, 9443501) |
| TSFM | AR | Combined oxidative phosphorylation deficiency 3 | (17033963) |
| 4) Disorders of purine metabolism | |||
| ADSL | AR | Adenylosuccinate lyase deficiency | (24946698) |
| AMPD1 | AR | Adenosine monophosphate deaminase deficiency | (8335021) |
| AHCY | AR | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | (16736098, 15024124) |
| 5) Myopathies | |||
| ANO5 | AR | Anoctaminopathy-5 | (24889862) |
| CASQ1 | AD | Vacuolar myopathy with CASQ1 aggregates | (25116801) |
| CAV3 | AD/AR | Caveolinopathy | (27312022) |
| DMD | XLR | Duchenne and Becker muscular dystrophy | (19762730) |
| DYSF | AR | Dysferlinopathy | (22550092) |
| FKRP | AR | Muscular dystrophy-dystroglycanopathy | (22029705) |
| FKTN | AR | Muscular dystrophy-dystroglycanopathy | (6498017) |
| GMPPB | AR | Muscular dystrophy-dystroglycanopathy | (25681410) |
| ISPD | AR | Muscular dystrophy-dystroglycanopathy | (23390185) |
| SGCA | AR | Alpha-sarcoglycanopathy | (26453141, 23989969) |
| 6) Disorders of abnormal skeletal muscle relaxation and contraction | |||
| ATP2A1 | AR | Brody myopathy | (25614869) |
| CACNA1S | AD | Malignant hyperthermia susceptibility 5, Hypokalemic periodic paralysis | (26238698, 9199552, 25658027) |
| MYH3 | AD | Freeman-Sheldon syndrome, Sheldon-Hall syndrome | (16642020, 16510655, 24431877) |
| RYR1 | AD/AR | Malignant hyperthermia susceptibility 1, Exertional rhabdomyolysis, Congenital myopathies | (23628358, 23476141) |
| SCN4A | AD | Hyperkalemic periodic paralysis type 2, Hypokalemic periodic paralysis type 2, Potassium-aggravated myotonia, Paramyotonia congenita | (23801527) |
| 7) Miscellaneous | |||
| AMACR | AR | Alpha-methylacyl-CoA racemase deficiency | (20921516) |
| CTDP1 | AR | Congenital cataracts, facial dysmorphism, and neuropathy | (20301787) |
| CYP2C8 | AR | Cerivastatin-induced rhabdomyolysis | (15365880) |
| HMBS | AD | Acute Intermittent Porphyria | (25389600, 18647325) |
| HRAS | AD | Costello syndrome | (8834040) |
| KCNJ11 | AR | Congenital hyperinsulinism | (24421282) |
| LPIN1 | AR | Myoglobinuria, acute recurrent, autosomal recessive | (20583302) |
| QARS | AR | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | (24656866) |
| SIL1 | AR | Marinesco-Sjögren syndrome | (9638664) |
| SLC16A1 | AD | Erythrocyte lactate transporter defect | (3775384) |
| TSEN54 | AR | Pontocerebellar hypoplasia type 2 | (23177318) |
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; MOI, mode of inheritance; PMID, Pubmed ID; XLR, X-linked recessive.