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Other Metabolic Syndromes

  • Matthew T. Whitehead
  • Andrea L. GropmanEmail author
Chapter

Abstract

Most inborn errors of metabolism (IEMs) have neurological symptoms, and many cause injury to the developing central nervous system (CNS). Diagnosis can be challenging, as a number of these neurometabolic disease processes manifest similar signs and symptoms. Disorders may present with acute encephalopathy and metabolic crisis; these are the most critical to recognize and prevent as the risk for repeated, intermittent, or ongoing injury is significant. On the other hand, some IEMS can cause progressive injury resulting in chronic encephalopathy and may be amenable to lifelong therapies. MRI can be used to identify patterns of injury to help classify the nature of the neural injury, and in many cases, MRI provides key clues or biomarkers to identify the underlying disease. Herein, we review some of the most common disorders classified as acute or chronic encephalopathy-associated IEMs. Disease-specific MRI and MR spectroscopy patterns are showcased.

Keywords

Metabolism IEM Imaging MRI Spectroscopy 

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Copyright information

© Springer International Publishing AG 2018

Authors and Affiliations

  1. 1.Children’s National Health SystemWashington, DCUSA
  2. 2.The George Washington University School of MedicineWashington, DCUSA

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