Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies

Mol Genet Metab. 2022 Sep-Oct;137(1-2):213-222. doi: 10.1016/j.ymgme.2022.09.004. Epub 2022 Sep 18.

Abstract

Metabolic myopathies are characterized by the deficiency or dysfunction of essential metabolites or fuels to generate energy for muscle contraction; they most commonly manifest with neuromuscular symptoms due to impaired muscle development or functioning. We have summarized associations of signs and symptoms in 358 inherited metabolic diseases presenting with myopathies. This represents the tenth of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.

Keywords: Exercise intolerance; Hypotonia; Rhabdomyolysis; Skeletal muscle; Weakness.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Intramural

MeSH terms

  • Humans
  • Metabolic Diseases* / genetics
  • Metabolism, Inborn Errors* / diagnosis
  • Metabolism, Inborn Errors* / genetics
  • Muscular Diseases* / metabolism