CLINICAL CASE OF METHYLMALONIC ACIDEMIA
Elena Anatolyevna Tkachuk,
Darya Mikhailovna Barykova,
Yuliya Sergeevna Livadarova,
Igor Zhanovich Seminsky,
Tatyana Alexandrovna Astakhova,
Elena Gennadievna Osipova,
Yuliya Viktorovna Mikhelsone,
Tatyana Yuryevna Dorofeeva,
Nikolay Vasilyevich Syrkin,
Maria Igorevna Krasnova,
Anna Viktorovna Rudakova,
Daria Yuryevna Alexandrova https://doi.org/10.57256/2949-0715-2023-1-40-49
Abstract
The paper describes a clinical case of methylmalonic acidemia in a newborn premature baby with a aggravated genealogical and obstetric history. The problems of diagnosing aminoacidopathy as a large heterogeneous group of hereditary diseases, which, as a rule, manifest in early childhood and are accompanied by life-threatening or disabling consequences, are considered. The paper presents clinical and laboratory data on methylmalonic acidemia, and analyzes the mechanisms of pathogenesis. It is noted that the difficulty in diagnosing methylmalonic acidemia, as well as other aminoacidopathy, is associated with the polymorphism of the clinical picture, the absence of specific clinical manifestations at the onset of the disease manifestation, and the use of special research methods in the diagnosis. It has been shown that the presence of aggravated factors often does not allow correct interpretation of clinical and laboratory data, making timely diagnosis and treatment difficult.
Conclusion. Diagnosis of methylmalonic adiduria should take into account the unfolding of metabolic changes in the blood and urine over time. It is necessary to simultaneously analyze changes in the levels of metabolites in the blood and urine. The gold standard and the most reliable method of delivering a diagnosis is DNA diagnostics.
Conclusion. Diagnosis of methylmalonic adiduria should take into account the unfolding of metabolic changes in the blood and urine over time. It is necessary to simultaneously analyze changes in the levels of metabolites in the blood and urine. The gold standard and the most reliable method of delivering a diagnosis is DNA diagnostics.
About the Authors
Elena Anatolyevna Tkachuk
д.м.н., профессор кафедры патологической физиологии и клинической лабораторной диагностики ФГБОУ ВО ИГМУ Минздрава России;
научный сотрудник ФГБНУ Научный центр проблем здоровья семьи и репродукции человека
Russian Federation
Russian Federation
Darya Mikhailovna Barykova
врач-генетик ГБУЗ Иркутская ордена «Знак Почета» областная клиническая больница;
ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»
Russian Federation
Russian Federation
Yuliya Sergeevna Livadarova
заведующая отделением патологии новорожденных и недоношенных детей, врач-неонатолог ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»
Russian Federation
Russian Federation
Igor Zhanovich Seminsky
д.м.н., профессор, проректор по научной работе, заведующий кафедрой патологической физиологии и клинической лабораторной диагностики ФГБОУ ВО ИГМУ Минздрава России
Tatyana Alexandrovna Astakhova
к.м.н., врач-генетик, научный сотрудник ФГБНУ Научный центр проблем здоровья семьи и репродукции человека
Russian Federation
Russian Federation
Elena Gennadievna Osipova
врач-неонатолог ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»
Russian Federation
Russian Federation
Yuliya Viktorovna Mikhelsone
врач-неонатолог ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»
Russian Federation
Russian Federation
Tatyana Yuryevna Dorofeeva
врач-неонатолог ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»
Russian Federation
Russian Federation
Nikolay Vasilyevich Syrkin
анестезиолог-реаниматолог ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»
Russian Federation
Russian Federation
Maria Igorevna Krasnova
врач-неонатолог ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»,
врач анестезиолог -реаниматолог ГБУЗ Иркутская ордена «Знак Почета» областная клиническая больница
Russian Federation
Russian Federation
Anna Viktorovna Rudakova
врач-невролог ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»,
невролог центра орфанных заболеваний ОГБУЗ ИОДКБ
Russian Federation
Russian Federation
Daria Yuryevna Alexandrova
лаборант-исследователь лаборатории наследственных болезней обмена веществ ФГБНУ "Медико-генетический научный центр им Н.П. Бочкова"
Russian Federation
Russian Federation
References
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Review
For citations:
Tkachuk E.A., Barykova D.M., Livadarova Yu.S., Seminsky I.Zh., Astakhova T.A., Osipova E.G., Mikhelsone Yu.V., Dorofeeva T.Yu., Syrkin N.V., Krasnova M.I., Rudakova A.V., Alexandrova D.Yu. CLINICAL CASE OF METHYLMALONIC ACIDEMIA. Baikal Medical Journal. 2023;2(1):40-49. (In Russ.) https://doi.org/10.57256/2949-0715-2023-1-40-49
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