The basis of inborn errors of metabolism for neuroradiologists

Filippo Vairo, Leonardo Vedolin

Research output: Contribution to journalArticle

3 Scopus citations

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 reviewof 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.

Original languageEnglish (US)
Pages (from-to)209-214
Number of pages6
JournalTopics in Magnetic Resonance Imaging
Volume22
Issue number5
DOIs
StatePublished - Oct 2011

Keywords

  • Genetics
  • Inborn errors of metabolism
  • Magnetic resonance imaging
  • Neuroradiology

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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