Metabolic disorders

Metabolic disorders induced by the hereditary pathology of nervous system: Usually, the disease is diagnosed right after the birth, but sometimes it can manifests in adult age. The symptoms of metabolic pathology include increased excitability, delayed neural and motor development, vomiting fits and enhanced hidrosis.Hereditary metabolic disorders (HMD) are a large group of monogenic hereditary diseases, conditioned by the gene mutations that code enzymes, transport or signal proteins. To date, over 500 types of diseases are known, and their number keeps growing. Early diagnostics of the HMD opens the opportunity for more beneficial treatment, which tend to fail at later stages. Moreover, correct diagnosis is important for medical-genetic consulting of the family. All HMD are subdivided into 22 subgroups depending on the leading biochemical and/or molecular-genetic defect. The most widely spread and better studied are lysosomal storage diseases, mitochondrial encephalopathies, peroxisomal diseases, metabolic imbalance of aminoacids/organic acids and carbohydrates.