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High Prevalence of c.1528G>C Rearrangement in Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from Ukraine

Cytology and Genetics volume 52, pages 198–203 (2018)Cite this article

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.

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Authors and Affiliations

  1. Laboratory of Medical Genetics, NSCH OKHMATDYT, Ministry of Health of Ukraine, Kyiv, 01135, Ukraine

    O. Barvinska & N. Olkhovych

  2. Chair of Medical and Laboratory Genetics, Shupyk National Medical Academy of Postgraduate Education, Kyiv, 04112, Ukraine

    N. Gorovenko

Authors
  1. O. Barvinska
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  2. N. Olkhovych
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  3. N. Gorovenko
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Correspondence to O. Barvinska.

Additional information

Original Ukrainian Text © O. Barvinska, N. Olkhovych, N. Gorovenko, 2018, published in Tsitologiya i Genetika, 2018, Vol. 52, No. 3, pp. 40–46.

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Barvinska, O., Olkhovych, N. & Gorovenko, N. High Prevalence of c.1528G>C Rearrangement in Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from Ukraine. Cytol. Genet. 52, 198–203 (2018). https://doi.org/10.3103/S0095452718030027

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  • DOI: https://doi.org/10.3103/S0095452718030027

Keywords

  • trifunctional protein deficiency
  • isolated LCHAD deficiency
  • HADHA gene
  • missense rearrangement c.1528G>C