遗传代谢性疾病的临床和生化特征：X. 代谢性肌病。

Laboratory for Neuromuscular Diseases, Campus Pietro d'Abano, University of Padova, Padova, Italy.

Division of Inherited Metabolic Diseases, Reference Center for Expanded Newborn Screening, University Hospital Padova, 35128, Padua, Italy.

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

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.

代谢性肌病的特征是必需代谢物或燃料的缺乏或功能障碍，无法为肌肉收缩产生能量；由于肌肉发育或功能受损，它们最常表现为神经肌肉症状。我们总结了 358 种遗传性代谢疾病中与肌病相关的体征和症状的关联。这是根据系统受累情况创建和维护全面的临床和代谢鉴别诊断列表的十篇系列文章之一。