Introduction

Inborn errors of metabolism (IEM) are genetic disorders with a low prevalence in the general population. These rare diseases are caused by a dysfunction of genes that control specially the intermediary metabolism of carbohydrates, lipids, amino acids, vitamins, or energy metabolism. IEM may present at any age, from newborn to adulthood, and in general no specific features are related to the type of IEM. Most of them may manifest neurologic symptoms (neurometabolic diseases) and comprise a large group of IEM affecting the brain, particularly in the neonatal period and during infancy.

Source: Seminars in Pediatric Neurology - October 31, 2016 Category: Neurology Authors: Jaume Campistol Source Type: research