Pediatric Endocrinology Diabetes and Metabolism

Abstract

3/2026 vol. 32
Case report

Medium-chain acyl-CoA dehydrogenase deficiency in the neonatal period: a case report

Aleksandra Wądołowska 1
,
Magdalena Alicja Suda-Całus 1
,
Ewa Matylda Gulczyńska 1

  1. Department of Neonatology, Neonatal Intensive Care Unit and Neonatal Pathology, Polish Mother’s
    Memorial Hospital – Research Institute, Łódz, Poland

Pediatr Endocrinol Diabetes Metab 2026; 32 (3): 219-222

DOI: https://doi.org/10.5114/pedm.2026.163264
Online publish date: 2026/08/14
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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

medium-chain acyl-CoA dehydrogenase deficiency, inherited disorders of fatty acid metabolism, neonatal hypoglycemia

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