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Glutaric Aciduria -CT

 Glutaric Aciduria Type I (GA-I) is an autosomal recessively inherited inborn error of metabolism characterized by the deficiency of the mitochondrial enzyme glutaryl CoA dehydrogenase  that catalyzes the dehydrogenation - decarboxylation of glutaric acid, an intermediary metabolite in the degradation pathway of lysine, hydroxylysin and tryptophan. CT brain shows widening of sylvian fissures. Features characteristic of GA I on MRI are fronto-temporal atrophy and bat-wing dilatation of the sylvian fissures, signal abnormality in both putamen and in the fronto-parietal deep white matter. Case Submitted by Dr Sofiane Zentout, Radiologist

Glutaric Aciduria -CT Reviewed by Sumer Sethi on Monday, February 06, 2012 Rating: 5

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