Long-chain Fatty Acid Oxidation Disorders, Early Diagnosis and Role of Breastfeeding. Case Report

A male newborn, the second child of non-consanguineous parents, was delivered by scheduled caesarean section at 38 + 6 weeks of gestation with a birth weight of 3340 g. Remarkable symptoms, including recurrent vomiting, episodes of hypoglycemia, and a weight loss of over 10%, manifested as early as the 4th day of life. The infant was transferred to a medical center with a neonatal intensive care unit for further evaluation. Newborn screening (NBS) results arrived on the 5th day of life, indicating a long-chain fatty acid oxidation disorder (LC-FAOD). Comprehensive metabolic investigations and genetic diagnostics were initiated, confirming the diagnosis of LCHAD deficiency over the course of the evaluation. During the hospital stay, the focus was on regular breastfeeding sessions to prevent catabolic phases. The infant was transferred to the regular ward on the 12th day of life and discharged on the 14th day. Multidisciplinary care, regular medical monitoring, and tailored nutrition played a crucial role in the successful management of this rare congenital metabolic disorder. NBS holds significant importance in the early detection of manageable inborn metabolic disorders. LC-FAODs disrupt the breakdown of fatty acids and can lead to severe health issues. While symptoms vary, close collaboration among various medical professionals is required. Breastfeeding in newborns is considered adequate, age-appropriate nutrition, providing numerous health benefits for both the child and mother, including promoting the bond between them. The unique composition of breast milk adapts to the child's needs. The case underlines the importance of NBS, collaboration among different medical disciplines, and the role of breastfeeding, triheptanoin supplementation in the course of the disease, and adapted nutrition in dealing with LC-FAODs. Early diagnosis and a comprehensive approach are crucial for optimal care and quality of life.