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

Metabolic myopathies are characterized by the deficiency or dysfunction of essential metabolites or fuels to gen-erate energy for muscle contraction; they most commonly manifest with neuromuscular symptoms due to im-paired 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.(c) 2022 Elsevier Inc. All rights reserved.

Automated summary

This article summarizes the associations of signs and symptoms in 358 inherited metabolic diseases presenting with myopathies, aiming to create and maintain a comprehensive list of clinical and metabolic differential diagnoses.