Inherited metabolic disorders in Republic of Moldova

Abstract

Introduction: Inherited metabolic diseases include different inborn errors of metabolism caused by genetic reasons. It should be noted that each inherited metabolic disorder is rare in population but all together these diseases may affect about 1 in 1000 to 2500 newborns. Some of these diseases are detected by routine screening, other need elaboration of new efficient methods of diagnosis. The aim of this study was to present the current comprehensive information about the distribution, frequency and methods of diagnostic of the inherited metabolic disorders in Republic of Moldova during last 5 years.

Material and Methods: We analyzed publications and medical data for the last 5 years using PubMed, SpringerLink system and IBN to study the incidence, prevalence, causes, symptoms, and modern methods of diagnosis of inherited metabolic disorders in Moldova.

Discussion results: It’s known that the main cause of the inherited metabolic disorders is different mutations in genes that produce abnormalities in synthesis, transformation and degradation of proteins, lipids and carbohydrates. Inherited metabolic diseases are characterized by a variety of symptoms that may affect any organ and usually affect more than one. There is no effective therapy for many inherited metabolic disorders. Current trends in the treatment are aimed at only symptomatic therapy. During the period from 2011 to 2014, in Moldova were examined children with different metabolic disorders using the following methods: fluid chromatography, NMR and mass spectrometry methods. In base of obtained data the National Register of rare diseases was elaborated. It includes 12 metabolic diseases: methylmalonic aciduria, glutaric aciduria, galactosemia, alcaptonuria, glycogen accumulation diseases, lysosomal diseases, mitochondrial diseases and others. Genetic diagnosis methods include PCR analysis, DNA sequencing, Southern blot method, and allow to reveal the problem at an early stage of development.

Conclusion: The elaboration of the National Register of the rare diseases and introduction into medical practice of the molecular methods of diagnostic of inborn errors of metabolism will help to reduce the mortality and morbidity in children due to early detection of problems and their early treatment.