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Pathology

G159 DISCREPANCY BETWEEN NEUROIMAGING AND POSTMORTEM FINDINGS IN A CASE OF GLUTARIC ACIDURIA TYPE I
N. Balgobin¹, M. Farrell², S. Ryan¹, E. R. Naughten¹, D. Devaney¹.¹The Children’s University Hospital, Temple Street, Dublin, Ireland; ²Beaumont Hospital, Dublin, Ireland

Introduction: Glutaric aciduria type I (GA1) is an inherited disorder of organic acid metabolism due to a deficiency of glutaryl-CoA dehydrogenase, which leads to an error in the degradation of amino acids lysine, hydroxylysine, and tryptophan. As a result, glutaric acid accumulates in physiological body fluids and tissues and can damage the brain.

Case report: This report describes a 4 year old girl with GA1 and secondary dyskinetic cerebral palsy. Initial presentation was at 18 months with acute encephalopathy post-Cryptosporidium enteritis. Management included a protein restricted diet together with aggressive emergency treatment of catabolic conditions that may exacerbate the disorder. A baseline brain MRI showed typical appearances of GA1, and considerable improvement was seen on a repeated study over 2 . . . [Full text of this article]