ACUTE METABOLIC CRISIS TREATMENT PROTOCOL AT METHYLMALONIC ACIDEMIA
The article is dedicated to a pressing issue of pediatrics — diagnosis and treatment of an autosomal-recessive disease from the group of organic acidemias — methylmalonic acidemia. Despite the attained progress in diagnosis of this disease based on the molecular genetic research and an expanding ars...
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| Format: | Article |
| Language: | Russian |
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Union of pediatricians of Russia
2014-07-01
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| Series: | Педиатрическая фармакология |
| Subjects: | |
| Online Access: | https://www.pedpharma.ru/jour/article/view/83 |
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| author | S. I. Polyakova E. A. Roslavtseva R. F. Tepaev A. O. Anushenko |
| author_facet | S. I. Polyakova E. A. Roslavtseva R. F. Tepaev A. O. Anushenko |
| author_sort | S. I. Polyakova |
| collection | DOAJ |
| description | The article is dedicated to a pressing issue of pediatrics — diagnosis and treatment of an autosomal-recessive disease from the group of organic acidemias — methylmalonic acidemia. Despite the attained progress in diagnosis of this disease based on the molecular genetic research and an expanding arsenal of therapeutic and nutritive instruments, results of treating children remain unsatisfactory. Metabolic crises in patients with organic acid metabolic disorders are accompanied by a severe affection of the central nervous system and associated with high mortality (up to 50% and more depending on the genetic subtype of the disease). Development of a metabolic crisis requires emergency medical care, including a wide range of therapeutic approaches, nutritional support recommendations and use of replacement renal technologies. The article present current data on pathophysiology, clinical laboratory description of the disease and metabolic crises, as well as the acute methylmalonic acidemia attack (crisis) management protocol, use of which helps to achieve a significant increase in survivability of pediatric patients. |
| format | Article |
| id | doaj-art-3af3ebe419344f48969afacd3ae3bb78 |
| institution | Kabale University |
| issn | 1727-5776 2500-3089 |
| language | Russian |
| publishDate | 2014-07-01 |
| publisher | Union of pediatricians of Russia |
| record_format | Article |
| series | Педиатрическая фармакология |
| spelling | doaj-art-3af3ebe419344f48969afacd3ae3bb782025-08-20T03:59:16ZrusUnion of pediatricians of RussiaПедиатрическая фармакология1727-57762500-30892014-07-0111411611910.15690/pf.v11i4.107583ACUTE METABOLIC CRISIS TREATMENT PROTOCOL AT METHYLMALONIC ACIDEMIAS. I. Polyakova0E. A. Roslavtseva1R. F. Tepaev2A. O. Anushenko3Scientific Center of Children’s Health, Moscow, Russian Federation Pirogov Russian National Medical Research University, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationScientific Center of Children’s Health, Moscow, Russian Federation Sechenov First Moscow State Medical University, Russian FederationScientific Center of Children’s Health, Moscow, Russian FederationThe article is dedicated to a pressing issue of pediatrics — diagnosis and treatment of an autosomal-recessive disease from the group of organic acidemias — methylmalonic acidemia. Despite the attained progress in diagnosis of this disease based on the molecular genetic research and an expanding arsenal of therapeutic and nutritive instruments, results of treating children remain unsatisfactory. Metabolic crises in patients with organic acid metabolic disorders are accompanied by a severe affection of the central nervous system and associated with high mortality (up to 50% and more depending on the genetic subtype of the disease). Development of a metabolic crisis requires emergency medical care, including a wide range of therapeutic approaches, nutritional support recommendations and use of replacement renal technologies. The article present current data on pathophysiology, clinical laboratory description of the disease and metabolic crises, as well as the acute methylmalonic acidemia attack (crisis) management protocol, use of which helps to achieve a significant increase in survivability of pediatric patients.https://www.pedpharma.ru/jour/article/view/83methylmalonic academiametabolic crisisdiagnosissymptomsmanagementchildren |
| spellingShingle | S. I. Polyakova E. A. Roslavtseva R. F. Tepaev A. O. Anushenko ACUTE METABOLIC CRISIS TREATMENT PROTOCOL AT METHYLMALONIC ACIDEMIA Педиатрическая фармакология methylmalonic academia metabolic crisis diagnosis symptoms management children |
| title | ACUTE METABOLIC CRISIS TREATMENT PROTOCOL AT METHYLMALONIC ACIDEMIA |
| title_full | ACUTE METABOLIC CRISIS TREATMENT PROTOCOL AT METHYLMALONIC ACIDEMIA |
| title_fullStr | ACUTE METABOLIC CRISIS TREATMENT PROTOCOL AT METHYLMALONIC ACIDEMIA |
| title_full_unstemmed | ACUTE METABOLIC CRISIS TREATMENT PROTOCOL AT METHYLMALONIC ACIDEMIA |
| title_short | ACUTE METABOLIC CRISIS TREATMENT PROTOCOL AT METHYLMALONIC ACIDEMIA |
| title_sort | acute metabolic crisis treatment protocol at methylmalonic acidemia |
| topic | methylmalonic academia metabolic crisis diagnosis symptoms management children |
| url | https://www.pedpharma.ru/jour/article/view/83 |
| work_keys_str_mv | AT sipolyakova acutemetaboliccrisistreatmentprotocolatmethylmalonicacidemia AT earoslavtseva acutemetaboliccrisistreatmentprotocolatmethylmalonicacidemia AT rftepaev acutemetaboliccrisistreatmentprotocolatmethylmalonicacidemia AT aoanushenko acutemetaboliccrisistreatmentprotocolatmethylmalonicacidemia |