Natalia Pechatnikova 1,, Nina Polyakova 1, Victoria Kakaulina1, Vera Zarubina1, Oleg Potekhin 1, Artem Bullikh 1, Galina Baydakova2
1 – Morozov′s Children Clinical Hospital, Moscow, Russia 2 – Research Center for Medical Genetics, Moscow, Russia
Natalia Pechatnikova: Npechatnikova@gmail.com, +79165196243
Background: Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHADD)– rare inborn error of metabolism from the group of inherited mitochondrial fatty acid oxidation disorders (FAOD). The frequency of this disorder in Europe is 1:60 000 – 1:100 000 live newborns. This disease is characterized by the liver and cardiac lesions, frequent metabolic crisis and high mortality in the early infancy. From the July 2016 in Moscow and Moscow region all high-risk children were screened for inborn errors of metabolism. Among screening indications were hepatomegaly, cardiomyopathy, increase liver enzyme and Creatine Kinase level.
Methods: The high-risk screening was performed by MS/MS analysis («NeoGram Amino Acids and Acylcarnitines Tandem Mass Spectrometry Kit» (Perkin Elmer Life and Analytical Sciences, Wallac OY, Finland). All MS/MS findings were confirmed by DNA analysis.
Results: In the period between July 2016 and March 2018, 4065 high-risk screening tests were done. 38 cases of 12 inborn errors of metabolism were diagnosed. FAOD was the most numerous group (7 cases were found: 6 LCHADD and 1 VLCAD). All diagnosed LCHADD cases were homozygous for HADHA c.1528G>C (p.Glu474Gln) mutation.
Conclusions: FAOD is one of the most common group of inborn errors of metabolism in Moscow and Moscow region, diagnosed by high-risk screening. In this group LCHADD takes the first place in the number of cases.
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