High prevalence of с.1528G>C rearrangement among patients with long chain 3-hydroxyacyl-CoA dehydrogenase deficiency from Ukraine

Barvinska O., Olkhovych N., Gorovenko N.

SUMMARY. During 2011–2016, 6 patients with a set of clinical symptoms and biochemical markers were identified within the selective screening of inborn errors of amino acid and acylcarnitines metabolism, which indicated a high probability of one of the two of fatty acids β-oxidation disorders associated with complete deficiency of trifunctional protein (TFP) or isolated defi-ciency of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD). To differentiate between these two inherited disorders molecular genetic analysis of major missense rearrangement c.1528G>C in the gene HADHA was carried out. This mutation is associated with isolated LCHAD deficiency and the world prevalence of its alleles varies from 68 to 95 %. As a result of this study, it was shown that this mutation was present in 100 % alleles of patients from Ukraine. Therefore, the diagnosis of isolated LCHAD deficiency was confirmed in these six patients. Thus, at present the preliminary prevalence of isolated LCHAD deficiency in Ukraine is 1:329,968 live birth which is 2.1 times lower than the average prevalence in Europe.

Tsitologiya i Genetika 2018, vol. 52, no. 3, pp. 40-46

E-mail: oiaminska gmail.com

Barvinska O., Olkhovych N., Gorovenko N. High prevalence of с.1528G>C rearrangement among patients with long chain 3-hydroxyacyl-CoA dehydrogenase deficiency from Ukraine, Tsitol Genet., 2018, vol. 52, no. 3, pp. 40-46.

In "Cytology and Genetics":
O. Barvinska, N. Olkhovych, N. Gorovenko High Prevalence of c.1528G>C Rearrangement in Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from Ukraine, Cytol Genet., 2018, vol. 52, no. 3, pp. 198–203
DOI: 10.3103/S0095452718030027