Метилмалоновая ацидурия у детей: клинические рекомендации

Methylmalonic acidemia (aciduria) is an inherited metabolic disturbance from the group of organic acidemias (acidurias). The article presents etiopathogenetic, epidemiological, diagnostic, and therapeutic aspects of the problem. The possibilities of laboratory and instrumental diagnostic methods the tactics of dietary correction of metabolic disorders in acute and interstitial periods of the disease are described in details; features of drug treatment are outlined. The necessary information for clinical practice and patients’ everyday life is given in the article.Метилмалоновая ацидемия (ацидурия) — генетически гетерогенное наследственное заболевание группы органических ацидемий (ацидурий). В статье представлены этиопатогенетические, эпидемиологические, диагностические и терапевтические аспекты данной проблемы. Подробно освещены возможности лабораторных и инструментальных методов диагностики и особенности медикаментозного лечения, изложена тактика диетической коррекции метаболических нарушений в острый и межприступный периоды заболевания. Дана необходимая информация для практических врачей и родителей пациентов

Methylmalonic Aciduria in Children: Clinical Recommendations

Methylmalonic acidemia (aciduria) is an inherited metabolic disturbance from the group of organic acidemias (acidurias). The article presents etiopathogenetic, epidemiological, diagnostic, and therapeutic aspects of the problem. The possibilities of laboratory and instrumental diagnostic methods the tactics of dietary correction of metabolic disorders in acute and interstitial periods of the disease are described in details; features of drug treatment are outlined. The necessary information for clinical practice and patients’ everyday life is given in the article

Homocystinuria in Children

Homocystinuria is a genetically heterogeneous hereditary disease from the group of aminoacidopathies caused by a metabolic disorder of  sulphur-containing amino acids, primarily methionine. The article  presents the etiopathogenetic, diagnostic and therapeutic aspects of this disease and covers modern opportunities of biochemical and molecular  diagnostics. The approach to dietary and pharmacological correction of  metabolic disorders in homocystinuria and the general strategy of  patients’ management are described in detail. Important information is given for physicians of various disciplines and parents of patients