Which conditions are considered primary metabolic myopathies?
(Most common disorders in bold)
- A. Disorders of glycolysis/glycogenoslysis (Eponym, GSD, GENE)
- • Acid maltase deficiency (Pompe disease, 2, GAA )
- • Debrancher enzyme deficiency (Cori or Forbes disease, 3, AGL )
- • Branching enzyme deficiency (Andersen disease, 4, GBE1 )
- • Myophosphorylase deficiency (McArdle’s disease, 5, PYGM )
- • Phosphofructokinase deficiency (Tarui’s disease, 7, PKFM )
- • Phosphorylase b kinase deficiency
- • α subunit (9D, PHKA1 )
- • β subunit (9B, PHKB )
- • Phosphoglycerate mutase deficiency (10, PGAM2 )
- • Lactate dehydrogenase deficiency (11, LDHA )
- • Aldolase A deficiency (12, ALDOA )
- • β-enolase deficiency (13, ENO3 )
- • Phosphoglucomutase deficiency (14, PGM1 )
- • Glycogenin-1 deficiency (15, GYG1 )
- • Glycogen synthase 1 deficiency (0, GYS1 )
- • RBCK1 E3 ubiquitin ligase deficiency ( RBCK1 )
- • Phosphoglycerate kinase deficiency ( PGK1 )
- B. Disorders of fatty acid oxidation
- • Primary carnitine deficiency (CD) syndromes:
- • Carnitine acetyltransferase deficiency ( CRAT )
- • Carnitine palmitoyltransferase II deficiency ( CPT2 )
- • Multiple acyl-CoA dehydrogenase deficiency ( ETFA , ETFB , ETFDH )
- • Secondary carnitine deficiency syndromes
- • Acyl-CoA dehydrogenase deficiencies
- • Short chain ( HADH )
- • Medium chain ( ACADM )
- • Very long chain ( ACADVL )
- • Trifunctional protein deficiency ( LCHAD )
- • Lipin-1 deficiency ( LPIN1 )
- C. Mitochondrial myopathies
- • Electron transport chain protein deficiency
- • Multiple AcylCoA dehydrogenase deficiency (Complex I-IV mutations)
- • Mitochondrial ATP synthase deficiency (Complex V mutations)
- • Coenzyme Q10 gene mutation
- D. Disorders of purine metabolism
- • Myoadenylate deaminase deficiency – mostly no longer thought to cause metabolic muscle disease
