title: Infant with cardiomyopathy: When to suspect inborn errors of metabolism?
abstract: Inborn errors of metabolism are identified in 5%-26% of infants and children with cardiomyopathy. Although fatty acid oxidation disorders, lysosomal and glycogen storage disorders and organic acidurias are well-known to be associated with cardiomyopathies, emerging reports suggest that mitochondrial dysfunction and congenital disorders of glycosylation may also account for a proportion of cardiomyopathies. This review article clarifies when primary care physicians and cardiologists should suspect inborn errors of metabolism in a patient with cardiomyopathy, and refer the patient to a metabolic specialist for a further metabolic work up, with specific discussions of "red flags" which should prompt additional evaluation.
authors.affiliation: Stephanie L Byers, Can Ficicioglu, The Children's Hospital of Philadelphia, Section of Metabolic Disease, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, United States.
authors.forename: Stephanie L
authors.initials: SL
authors.lastname: Byers
authors.affiliation: Stephanie L Byers, Can Ficicioglu, The Children's Hospital of Philadelphia, Section of Metabolic Disease, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, United States.
authors.forename: Can
authors.initials: C
authors.lastname: Ficicioglu
keywords: Cardiomyopathy; Inborn errors of metabolism; Inherited metabolic disorders