Recent advances in the pathophysiology of inherited metabolic diseases.

Recent advances in the pathophysiology of inherited metabolic diseases. Int J Dev Neurosci. 2020 Jan 17;: Authors: Schuck PF, Ferreira GC, McKenna MC Abstract Inborn errors of metabolism (IEM) are a group of rare genetic diseases caused by defects in different types of proteins, including enzymes, structural proteins or transporters. The blockage of a metabolic pathway leads to an accumulation of precursors to the detriment of the products of this pathway (Fukao and Nakamura, 2019). The central nervous system is commonly affected in several of these disorders. PMID: 31951034 [PubMed - as supplied by publisher]
Source: International Journal of Developmental Neuroscience - Category: Neuroscience Authors: Tags: Int J Dev Neurosci Source Type: research