Glutaric aciduria: Improved MR appearance after aggressive therapy

C. H. Cho, A. C. Mamourian, J. Filiano, R. E. Nordgren

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

Advances in understanding the metabolic abnormalities which cause glutaric aciduria allow biochemical diagnosis on the basis of deficient enzyme and the potential for therapy. Brain abnormalities associated with this inborn error of metabolism have been demonstrated with CT and MR. The findings typically described are atrophy of the fronto-temporal regions with large insular cisterns and diffuse white matter hypodensities. We present a patient with glutatic aciduria, confirmed by enzymatic assay, who had these findings on CT and MR examination. Repeat imaging demonstrated significant improvement after dietary therapy and aggressive prevention of catabolism during febrile illness.

Original languageEnglish (US)
Pages (from-to)484-485
Number of pages2
JournalPediatric Radiology
Volume25
Issue number6
DOIs
StatePublished - Aug 1995

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Radiology Nuclear Medicine and imaging

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