Metabolic Disorders of the Brain: Part II

Sangam Kanekar, Joel Verbrugge

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Metabolic disorders of the brain are extensive and to encompass these disorders in two articles is impossible. The aim of this article to provide a brief overview of the non-organelle based metabolic disorders affecting the brain. Due to its complexity, classification of the metabolic disorders of brain is not easy. In this article we have discussed the non-organelle based metabolic disorders under following headings: aminoaciduria, organic academia, nuclear DNA repair defects, a defect in the gene encoding myelin proteins and various miscellaneous defects. Even though the neuroimaging findings overlay and may be non-specific for many of the metabolic disorders, some of the imaging features enable the radiologist to provide the physician with a logical approach by providing a road map and/or limiting the differential diagnosis. Understanding the basic biochemical defects is important to recognize these disorders. The relevant biochemistry and genetic defects are also discussed.

Original languageEnglish (US)
Pages (from-to)615-636
Number of pages22
JournalSeminars in Ultrasound, CT and MRI
Issue number6
StatePublished - Dec 2011

All Science Journal Classification (ASJC) codes

  • Radiology Nuclear Medicine and imaging


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