Insights into neurometabolic diseases

Abstract

<abstract><sec> <title>Background</title> <p>Neurometabolic diseases are the results of genetic changes that lead to an imbalance in energy utilization and metabolism.</p> </sec><sec> <title>Aim</title> <p>Our aim was to explore the update in treatment and diagnosis of neurometabolic disease.</p> </sec><sec> <title>Methods</title> <p>PubMed, Scopus, Google scholar, and the web of science were searched for studies reported in the last 20 years (1997–30/10/2020). The data was searched and archived by keywords like “Neurometabolic”, “neurogenesis”, and “role of neuro-degeneration in neurometabolic disease” without narrowing or limiting search items. Only abstracts of searched publications were reviewed. A total of 389 publications were found in the initial research, in which 62 publications were considered for the study and the remaining were excluded because of their specificity to the subject.</p> </sec><sec> <title>Study update</title> <p>The neurometabolic disease affects one in 500 newborns, causing a major burden of illness and infant mortality. However, the cause of the disease is unclear in up to 50% of neurological-like cases. Thus, we ask why are they referred to as neurometabolic disorders (NMD), despite extensive genetic and biochemistry investigations? Treatment is possible for some metabolic diseases. For instance, the devastating neurological effects of phenylketonuria have been recognized for many years. Except for some notable exceptions, treatment remains largely unsatisfactory. Therefore, research efforts concentrate on corrective genetic approaches applicable after early detection by newborn screening or before fertilization. We considered recent studies on treating neurometabolic diseases. We focused on the most common neurometabolic diseases and the associated clinical advancements in their therapy.</p> </sec></abstract>