An application experience of a specialized product based on 100% medium-chain triglyceride oil in diet therapy of a child with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a hereditary disease referred to the group of disorders of mitochondrial β-oxidation of fatty acids with autosomal recessive inheritance. The main symptoms include hypoglycemia, hepatic steatosis, cardiomyopathy, cardiac arrhythmias, progressive muscle hypotension. We present a case of successful diagnosis and treatment of a long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) with the use of 100% medium chain triglycerides’ oil product. The importance of the possibly earliest verification of the diagnosis and initiation of diet therapy using medium-chain triglyceride oils is emphasized, which allows to reduce the disease manifestations and determines the need to include diseases of mitochondrial fatty acids β-oxidation into the neonatal screening program.

deficiency of 3-hydroxyacyl-coa dehydrogenase of fatty acids with a long carbon chain, HELLP syndrome, hypoglycemia, liver steatosis, hepatomegaly, cardiomyopathy, medium chain triglycerides, children, HADHA gene

1. Cassandra L. Kniffin. Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency. Available at: https://www.omim.org/entry/609016

2. Rare diseases are rare, but rare disease patients are numerous. Available at: https://www.orpha.net/consor/cgi-bin/index.php

3. Natarajan S.K., Ibdah J. A. Role of 3-hydroxy fatty acid-induced hepatic lipotoxicity in acute fatty liver of pregnancy. Int. J. Mol. Sci. 2018; 19(1): 322. DOI: 10.3390/ijms19010322

4. Westbrook R.H., Dusheiko G., Williamson C. Pregnancy and liver disease. J. Hepatol. 2016; 64(4): 933-45. DOI: 10.1016/j.jhep.2015.11.030

5. Vishwanath V. A. Fatty Acid Beta-Oxidation Disorders: A Brief Review. Ann Neurosci. 2016 Mar;23(1):51-5. doi: 10.1159/000443556. Epub 2016 Mar 11. PMID: 27536022; PMCID: PMC4934411.

6. Novikov P. V., Nikolaeva E. A., Namazova-Baranova L.S. et al. Federal clinical recommendations for care for children with a child deficiency of acyl-coa fatty acid dehydrogenase with a very long carbon chain. Moscow. 2015. Available at: https://med-gen.ru/docs/recomend-dificit.pdf (In Russ.)@@ П.В. Новиков, Е. А. Николаева, Л. С. Намазова-Баранова, Т. Э. Боровик, Т. В. Бушуева, Н. Г. Звонкова, С.И Куцев, Е. Ю. Захарова. Федеральные клинические рекомендации по оказанию медицинской помощи детям с дефицитом ацилкоадегидрогеназы жирных кислот с очень длинной углеродной цепью. Министерство здравоохранения Российской Федерации, Союз педиатров России, Российское общество медицинских генетиков. Москва 2015. https://med-gen.ru/docs/recomend-dificit.pdf

7. Immonen T., Turanlahti M., Paganus A., Keskinen P., Tyni T., Lapatto R. Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Acta Paediatr. 2016; 105(5): 549-54. DOI: 10.1111/apa.13313

8. Fraser H., Geppert J., Johnson R., et al. Evaluation of earlier versus later dietary management in longchain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review. Orphanet J Rare Dis. 2019; 14(1): 258. DOI: 10.1186/s13023-019-1226-y

9. Lotz-Havla A.S., Röschinger W., Schiergens K., Singer K., Karall D., Konstantopoulou V., et al. Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Orphanet J Rare Dis. 2018; 13(1): 122. DOI: 10.1186/s13023-018-0875-6

10. Olpin S.E., Clark S., Andresen B. S., et al. Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. J Inherit Metab Dis. 2005;28(4):533-44. doi: 10.1007/s10545-005-0533-8. PMID: 15902556.

11. Bodian D, Klein E., Iyer R, et al. Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates. Genet Med. 2016, 221-230. Doi: 10.1038/gim.2015.111

12. MR 2.3.1.2432-08 Norms of physiological needs for energy and nutrients for various groups of the population of the Russian Federation. (In Russ.) Avalable at: https://www.rospotrebnadzor.ru/documents/details.php? ELEMENT_ID=4583.@@ МР 2.3.1.2432-08 Нормы физиологических потребностей в энергии и пищевых веществах для различных групп населения Российской Федерации. https://www.rospotrebnadzor.ru/documents/details.php? ELEMENT_ID=4583.