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Hereditary metabolic diseases occur in all populations, but are usually rare. However, they have severe and in many cases fatal manifestations and outcomes. Objective of the study: to show the importance of neonatal screening in the diagnosis of familial cases of hereditary metabolic diseases using a clinical example of medium-chain acyl-CoA dehydrogenase deficiency. A family with three children was under observation. In child V., born in 2023, the following was revealed as part of the extended neonatal screening: “Medium-chain acyl-CoA dehydrogenase deficiency of fatty acids”. In the girl’s brother, a boy P., born in 2022, clinical symptoms debuted at the age of 1 year 11 months, which also indicated a metabolic disorder in the child. Given the hereditary nature of the disease, previously diagnosed in the boy’s sister, the child underwent a genetic examination aimed at finding this hereditary disease. The study confirmed the deficiency of medium-chain acyl-CoA dehydrogenase of fatty acids. Taking into account the anamnesis, pedigree, clinical picture, laboratory tests, molecular genetic examination, a conclusion was made about the familial nature of the disease. Considering that many patients do not have symptoms of this disease throughout their lives, the older brother of the children, boy A., born in 2012, and parents were also examined for mitochondrial fatty acid oxidation disorder. Boy A. and parents were determined to be heterozygous carriers. Conducting neonatal screening provides not only the opportunity to detect metabolic disorders at the preclinical stage of the disease, but also to verify a complex rare nosology in the family, selectively in older children suffering from unclear polymorphic symptoms. In addition, when conducting extended neonatal screening, the final stage includes a molecular genetic examination, which allows confirming the diagnosis of a hereditary disease, but also identifying heterozygous carriers of the mutant gene in the family and forming contingents that require systematic medical and genetic monitoring.