High frequency of LCHADD in Moscow and Moscow region.

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.

A positive result

Cras congue justo vitae tortor aliquam mollis vel eu orci. Nunc tincidunt dui interdum, dignissim odio sit amet, sodales tortor. Fusce dignissim faucibus est, sit amet mattis nunc sollicitudin eget. Ut eu viverra dolor. Mauris at velit purus. Duis non enim non libero mollis maximus nec id est.

Aenean vulputate felis vitae lacus consectetur, sit amet aliquet erat faucibus. Integer eget massa luctus, iaculis metus vitae, porta dolor. Morbi congue, velit vel fringilla tempor, leo mi viverra enim, vel dictum ipsum libero sed nisl. Pellentesque porta magna eros, a dignissim erat tempus ac. Nullam malesuada euismod laoreet. Fusce a lacinia erat.