An ultra-rare form of fatty acid metabolism disorder in adults: a case report
https://doi.org/10.25557/2073-7998.2023.11.58-64
Abstract
The article presents clinical, genetic and molecular characteristics of the first case of glutaric aciduria type 2 (GA2, multiple acyl-CoA dehydrogenase deficiency) in an adult patient in Russia, which was triggered by physical activity and COVID-19. A previously undescribed mutation NM_004453.4:c.886G>C (p.Gly296Arg) (CM081237) in the ETFDH gene was discovered.
About the Authors
V. N. Serebrennikov
National Medical Research Center for High Medical Technologies - Central Military Clinical Hospital named after A.A. Vishnevsky of the Ministry of Defense of the Russian Federation
Russian Federation
Russian Federation
1, Novyiy village, Krasnogorsk, Moscow region, 143420
V. I. Baksheev
National Medical Research Center for High Medical Technologies - Central Military Clinical Hospital named after A.A. Vishnevsky of the Ministry of Defense of the Russian Federation
Russian Federation
Russian Federation
1, Novyiy village, Krasnogorsk, Moscow region, 143420
K. V. Serebrennikova
Research Center of Biotechnology of the Russian Academy of Sciences
Russian Federation
Russian Federation
33-2, Leninsky prospekt, Moscow, 119071
A. A. Prokhorchik
National Medical Research Center for High Medical Technologies - Central Military Clinical Hospital named after A.A. Vishnevsky of the Ministry of Defense of the Russian Federation
Russian Federation
Russian Federation
1, Novyiy village, Krasnogorsk, Moscow region, 143420
G. V. Baydakova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115478
P. V. Baranova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115478
E. Yu. Zakharova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115478
References
1. Merritt J.L. 2nd, Norris M., Kanungo S. Fatty acid oxidation disorders. Annals of translational medicine. 2018;6(24):473.
2. Narusheniya mitokhondrial’nogo beta-okisleniya zhirnykh kislot. Klinicheskiye rekomendatsii (utv. Minzdravom Rossii) [Fatty acid oxidation disorders. Clinical recommendations (approved by the Russian Ministry of Health)]. 2021;121 p. – URL: https://cr.minzdrav.gov.ru/recomend/694_1 (In Russ.)
3. Rocha H., Castiñeiras D., Delgado C. et al. Birth prevalence of fatty acid β-oxidation disorders in Iberia. JIMD Reports. 2014;16:89-94.
4. Saral N.Y., Aksungar F.B., Aktuglu-Zeybek C. et al. Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: a case report and review of literature. World Journal of Clinical Cases. 2018;6(14):786.
5. Przyrembel H., Wendel U., Becker K. et al. Glutaric aciduria type II: report on a previously undescribed metabolic disorder. Clinica Chimica Acta. 1976;66(2):227-239.
6. Ali A., Almesmari F.S., Dhahouri N.A. et al. Clinical, biochemical, and genetic heterogeneity in glutaric aciduria type ii patients. Genes. 2021;12(9):1334.
7. Model G.Yu., Tokovaya I.A., Shishkova M.S. Klinicheskoye nablyudeniye glutarovoy atsidemii II tipa u novorozhdennogo rebenka [Clinic case of glutaric acidaemya type II type in newborn] Nauchnyy vestnik zdravookhraneniya Kubani [Scientific Bulletin of Health Care of Kuban]. 2020; 1:34-45. (In Russ.)
8. Grünert S.C. Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency. Orphanet journal of rare diseases. 2014;9:1-8.
9. Li Q., Yang C., Feng L. et al. Glutaric acidemia, pathogenesis and nutritional therapy. Frontiers in Nutrition. 2021;8:704984.
10. Zhu M., Zhu X., Qi X. et al. Riboflavin-responsive multiple AcylCoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients. Journal of human genetics. 2014;59(5):256-61.
11. Lee H.C., Lai C.K., Siu T.S. et al. Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II. Diagnostic Molecular Pathology. 2010;19(3):184-6.
12. Fitzgerald M., Crushell E., Hickey C. Cyclic vomiting syndrome masking a fatal metabolic disease. European journal of pediatrics. 2013;172:707-710.
13. Ersoy E.O., Rama D., Ünal Ö. et al. Glutaric aciduria type 2 presenting with acute respiratory failure in an adult. Respiratory Medicine Case Reports. 2015;15:92-94.
14. Martins R.S., Guimas A., Rocha S. et al. Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia. Journal of Medical Cases. 2022;13(2):56.
15. Elkhateeb N., Chakrapani A., Davison J. et al. Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication. JIMD reports. 2021;57(1):15-22.
16. Arathil P., Nair A. A rare case of glutaric acidemia type 2 with psychosis. Amrita Journal of Medicine. 2021;17(1):16-.
17. Soldath P., Lund A., Vissing J. Late-onset MADD: a rare cause of cirrhosis and acute liver failure?. Acta Myologica. 2020;39(1):19.
18. Huang L., Wu W., Zhu Y. et al. Case report: Hemophagocytic lymphocytosis in a patient with glutaric aciduria type iic. Frontiers in Immunology. 2022;12:810677.
19. Prasad M., Hussain S. Glutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenager. Journal of Child Neurology. 2015;30(1):96-9.
20. Kaur S., Campbell S.L., Stockton D.W. Management of COVID-19 infection in organic acidemias. American Journal of Medical Genetics Part A. 2021;185(6):1854-7.
Review
For citations:
Serebrennikov V.N., Baksheev V.I., Serebrennikova K.V., Prokhorchik A.A., Baydakova G.V., Baranova P.V., Zakharova E.Yu. An ultra-rare form of fatty acid metabolism disorder in adults: a case report. Medical Genetics. 2023;22(11):58-64. (In Russ.) https://doi.org/10.25557/2073-7998.2023.11.58-64
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