The basis of inborn errors of metabolism for neuroradiologists

Abstract

Although relatively common together, inborn errors of metabolism (IEM) are individually rare, which makes difficult for most neuroradiologists to accumulate significant experience on these conditions. To facilitate the diagnostic approach, several schemes based on clinical, biochemical, genetic, and neuroimaging criteria have been proposed. Neuroimaging techniques have a great potential to improve diagnostic accuracy in as well as follow-up and management of the patients with an IEM. This article aimed to provide a nonexhaustive review of some basic information related to genetic conditions such as pattern of inheritance, penetrance, variable expressivity, genotype, phenotype and to provide information on how to classify, investigate, diagnose, and treat IEM besides highlighting some findings that would aid neuroradiologists to improve the diagnostic accuracy of imaging techniques, particularly magnetic resonance imaging.