ACUTE METABOLIC CRISIS TREATMENT PROTOCOL AT METHYLMALONIC ACIDEMIA

Abstract

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.