Nonmitochondrial Metabolic Cardioskeletal Myopathies
| Autor: | A. El-Gharbawy, J. Vockley |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Glycogen Cardiomyopathy Lysosomal storage disorders 030204 cardiovascular system & hematology Biology medicine.disease 03 medical and health sciences chemistry.chemical_compound 030104 developmental biology 0302 clinical medicine Endocrinology chemistry Internal medicine medicine Lysosomal storage disease Glycogen storage disease Mitochondrial respiratory chain defects Congenital disorder of glycosylation Beta oxidation |
| DOI: | 10.1016/b978-0-12-800040-3.00014-5 |
| Popis: | Inborn errors of metabolism (IEM) account for approximately 5% of all pediatric cardiomyopathies. Nineteen percent of childhood cardiomyopathy has been reported to have a metabolic cause, which is even higher in infants under 1 year of age (47%). The co-occurrence of congenital cardiomyopathy and congenital skeletal myopathy is uncommon, suggesting a genetic or metabolic defect if found together. More than 40 different IEM involving cardiomyopathy exist, including energetic diseases with fatty acid oxidation and mitochondrial respiratory chain defects, organic acidurias, glycogen storage diseases, lysosomal storage disorders, and congenital disorders of glycosylation. It is important to consider this group of disorders in any child with a cardiomyopathy. |
| Databáze: | OpenAIRE |
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