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 language | English (US) |
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Pages (from-to) | 484-485 |
Number of pages | 2 |
Journal | Pediatric Radiology |
Volume | 25 |
Issue number | 6 |
DOIs | |
State | Published - Aug 1995 |
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
- Radiology Nuclear Medicine and imaging