[PS8-1D-K] Neurometabolic disorders: an Overview
Many disorders are included in the category of neurometabolic disorders: inborn errors of amino acids, urea cycle disorders, organic acidurias, neurotransmitter defects, as well as mitochondrial diseases, lysosome disorders and inborn errors of metal metabolism. Neurological manifestations are the prominent symptoms in this group of diseases. Seizures are a common sign. For the diagnosis of these disorders, clinical symptoms, brain MRI and other images, chemical analysis of body fluids, cell and enzyme analysis are very important. In recent years, the importance of comprehensive gene analysis has become more important. Next-generation sequencing (NGS) will give us a new opportunity to diagnose rare disorders and often provides discovery of new diseases. For treatment, we must first understand the pathophysiology of a block in the metabolic flow. The principal of treatment consists of reducing accumulated toxic precursors (by diet, substrate reduction or use of alternate pathways), supplementation of deficient end products, stabilizing the mutant protein (chaperone) and improvement of enzymatic function (cofactor supplements). Curative treatment include replacement of the mutant proteins (whether by enzyme replacement, gene therapy or organ transplants).I will present the recent advances of diagnosis and treatment of neurometabolic disorders including newborn screening, application of NGS analysis, enzyme replacement therapy and gene therapy.