Abstract
Inborn errors of metabolism (IEMs) are a large group of rare genetic diseases that generally result from a defect in an enzyme or transport protein which results in a block in a metabolic pathway.In recent years, with the development of clinical molecular genetics, increasing evidence shows that IEMs are one of the important causes of cardiomyopathy in children.By precise intervention at an early stage and rectifying metabolic disorders for the cause, myocardial lesions are expected to be ameliorated and the quality of life may be significantly improved in some patients with IEMs.Therefore, it is of great importance to raise the awareness of metabolic cardiomyopathy in clinical practice. Key words: Cardiomyopathy; Inborn errors of metabolism; Diagnosis; Treatment
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