Pediatric endocrinology, diabetes, and metabolism
Medium-chain acyl-CoA dehydrogenase deficiency in the neonatal period: a case report
By Wądołowska A, Suda-Całus MA and Gulczyńska EM.
Abstract
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most prevalent inherited disorder of fatty acid metabolism. The symptoms of MCADD typically present in infancy and may lead to adverse outcomes for the newborn, requiring urgent medical intervention. This study aimed to describe the pathogenetic mechanism, clinical presentation, diagnosis, and treatment through a case study of a newborn diagnosed with MCADD.
Keywords
- Lipid Metabolism, Inborn Errors
- Acyl-CoA Dehydrogenase
- inherited disorders of fatty acid metabolism