High Prevalence of c.1528G>C Rearrangement in Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from Ukraine
- Authors: Barvinska O.1, Olkhovych N.1, Gorovenko N.2
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Affiliations:
- Laboratory of Medical Genetics, NSCH OKHMATDYT
- Chair of Medical and Laboratory Genetics
- Issue: Vol 52, No 3 (2018)
- Pages: 198-203
- Section: Article
- URL: https://journals.rcsi.science/0095-4527/article/view/173900
- DOI: https://doi.org/10.3103/S0095452718030027
- ID: 173900
Cite item
Abstract
During 2011–2016, selective screening of hereditary disorders of amino acid and acylcarnitines metabolism identified six patients with a set of clinical symptoms and biochemical markers, which indicated a high probability of one of the two hereditary disorders of fatty acids β-oxidation associated with complete deficiency of trifunctional protein (TFP) or isolated deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD). To differentiate these two inherited disorders, molecular genetic analysis of major missense rearrangement c.1528G>C in the HADHA gene was carried out. This mutation is associated with isolated LCHAD deficiency and the worldwide frequency of its alleles varies from 68 to 95%. As a result of this study, it was shown that this mutation was present in 100% of alleles in patients from Ukraine. Therefore, the diagnosis of isolated LCHAD deficiency was confirmed in these six patients. Thus, the preliminary frequency of isolated LCHAD deficiency in Ukraine is 1: 329968 live births at present, which is 2.1 times lower than the average for Europe.
About the authors
O. Barvinska
Laboratory of Medical Genetics, NSCH OKHMATDYT
Author for correspondence.
Email: oiaminska@gmail.com
Ukraine, Kyiv, 01135
N. Olkhovych
Laboratory of Medical Genetics, NSCH OKHMATDYT
Email: oiaminska@gmail.com
Ukraine, Kyiv, 01135
N. Gorovenko
Chair of Medical and Laboratory Genetics
Email: oiaminska@gmail.com
Ukraine, Kyiv, 04112