Medium-chain acyl-CoA dehydrogenase deficiency in North Macedonia - ten years experience.

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Tác giả: Violeta Anastasovska, Maruša Debeljak, Mirjana Kocova, Jernej Kovač, Tine Tesovnik, Nikolina Zdraveska

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: Germany : Journal of pediatric endocrinology & metabolism : JPEM , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 739935

OBJECTIVES: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid oxidation, with potentialy fatal outcome. Early diagnosis of MCADD by acylcarnitine analysis on newborn screening using tandem mass spectrometry can potentially reduce morbidity and mortality. In this study, we evaluate the prevalence and genetic background of MCADD in North Macedonia. METHODS: Medium chain length acylcarnitines, were measured on newborn screening blood spot cards by tandem mass spectrometry. The molecular diagnosis was performed by whole exome sequencing of the RESULTS: A total of 52,942 newborns were covered by metabolic screening during the period May 2014-May 2024. 11 unrelated Macedonian neonates were detected with positive MCADD screening markers, and prevalence of 1/4,813 live births was estimated. Molecular analysis of the CONCLUSIONS: The NBS estimated prevalence of MCADD in Macedonian population was more frequent than in the other European population and worldwide incidence in general. This is the first report of the genetic background of MCADD in North Macedonia.
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