CLINICAL CASE OF METHYLMALONIC ACIDEMIA
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 acco...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Ministry of Health of the Russian Federation, Irkutsk State Medical University
2023-03-01
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| Series: | Байкальский медицинский журнал |
| Subjects: | |
| Online Access: | https://www.bmjour.ru/jour/article/view/42 |
| _version_ | 1797370620151857152 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Elena Anatolyevna Tkachuk |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-08T18:08:18Z |
| format | Article |
| id | doaj.art-1ff06929a87548a88704e2153cc77cf5 |
| institution | Directory Open Access Journal |
| issn | 2949-0715 |
| language | English |
| last_indexed | 2024-03-08T18:08:18Z |
| publishDate | 2023-03-01 |
| publisher | Ministry of Health of the Russian Federation, Irkutsk State Medical University |
| record_format | Article |
| series | Байкальский медицинский журнал |
| spelling | doaj.art-1ff06929a87548a88704e2153cc77cf52024-01-01T12:18:05ZengMinistry of Health of the Russian Federation, Irkutsk State Medical UniversityБайкальский медицинский журнал2949-07152023-03-0121404910.57256/2949-0715-2023-1-40-4922CLINICAL CASE OF METHYLMALONIC ACIDEMIAElena Anatolyevna Tkachuk0Darya Mikhailovna Barykova1Yuliya Sergeevna Livadarova2Igor Zhanovich Seminsky3Tatyana Alexandrovna Astakhova4Elena Gennadievna Osipova5Yuliya Viktorovna Mikhelsone6Tatyana Yuryevna Dorofeeva7Nikolay Vasilyevich Syrkin8Maria Igorevna Krasnova9Anna Viktorovna Rudakova10Daria Yuryevna Alexandrova11д.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 человекаврач-генетик ГБУЗ Иркутская ордена «Знак Почета» областная клиническая больница; ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»заведующая отделением патологии новорожденных и недоношенных детей, врач-неонатолог ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»д.м.н., профессор, проректор по научной работе, заведующий кафедрой патологической физиологии и клинической лабораторной диагностики ФГБОУ ВО ИГМУ Минздрава Россиик.м.н., врач-генетик, научный сотрудник ФГБНУ Научный центр проблем здоровья семьи и репродукции человекаврач-неонатолог ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»врач-неонатолог ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»врач-неонатолог ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»анестезиолог-реаниматолог ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница»врач-неонатолог ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница», врач анестезиолог -реаниматолог ГБУЗ Иркутская ордена «Знак Почета» областная клиническая больницаврач-невролог ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница», невролог центра орфанных заболеваний ОГБУЗ ИОДКБлаборант-исследователь лаборатории наследственных болезней обмена веществ ФГБНУ "Медико-генетический научный центр им Н.П. Бочкова"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.https://www.bmjour.ru/jour/article/view/42метилмалоновая ацидемия, наследственные нарушения обмена, новорожденные дети, патогенез нарушений обмена аминокислот |
| spellingShingle | 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 CLINICAL CASE OF METHYLMALONIC ACIDEMIA Байкальский медицинский журнал метилмалоновая ацидемия, наследственные нарушения обмена, новорожденные дети, патогенез нарушений обмена аминокислот |
| title | CLINICAL CASE OF METHYLMALONIC ACIDEMIA |
| title_full | CLINICAL CASE OF METHYLMALONIC ACIDEMIA |
| title_fullStr | CLINICAL CASE OF METHYLMALONIC ACIDEMIA |
| title_full_unstemmed | CLINICAL CASE OF METHYLMALONIC ACIDEMIA |
| title_short | CLINICAL CASE OF METHYLMALONIC ACIDEMIA |
| title_sort | clinical case of methylmalonic acidemia |
| topic | метилмалоновая ацидемия, наследственные нарушения обмена, новорожденные дети, патогенез нарушений обмена аминокислот |
| url | https://www.bmjour.ru/jour/article/view/42 |
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