METABOLIC MYOPATHIES, GLYCOGENOSIS WITH MUSCULAR INVOLVEMENT AND CARNITINE CYCLE DISORDERS

ALDOA, CPT2, GAA, LDHA, PFKM, PGAM2, PHKA1, PHKB, PYGM, SLC25A20

Category:

Description

Scientific Background

Metabolic myopathies affect the metabolism of carbohydrates, mainly glucose and fats, the two main energy sources of skeletal muscles. The disorders include disturbances in glycolysis and glycogen degradation, ß-oxidation of fatty acids, and respiratory chain defects. The clinical symptoms of this heterogeneous group of diseases are variable and include muscle hypotonia, muscle weakness, stiffness and/or cramps, or acute rhabdomyolysis. Both triggering factors and age of manifestation vary. Neonates usually show hypotonia and multisystemic involvement (liver and brain) while late manifesting forms often imply exercise intolerance, hyperCKemia, myoglobinuria, with or without progressive muscle weakness.

 

Incidence and prevalence are still largely unknown, with mitochondrial disorders being the most common cause of metabolic myopathies with a prevalence of 1:8,000. The most common glycogenoses include Pompe disease at 1:40,000 and McArdle disease at 1:100,000. Carnitine palmitoyl transferase 2 (CPT 2) deficiency represents the most common lipid storage disease at 1:300,000.

 

Differential diagnoses include other genetic as well as acquired disorders; accordingly, a broad diagnostic approach is required. Gene panel diagnostics can contribute to accurate classification.

 

References

Lilleker et al. 2018 Pract Neurol 18:14 / Angelini 2015, Biochim Biophys Acta 1852:615 / Olpin 2015, J Clin Pathol 68:410

GENES

ALDOA, CPT2, GAA, LDHA, PFKM, PGAM2, PHKA1, PHKB, PYGM, SLC25A20
How to order