TY - JOUR T1 - Pathology JF - Archives of Disease in Childhood JO - Arch Dis Child SP - A64 LP - A64 VL - 90 IS - suppl 2 A2 - , Y1 - 2005/04/01 UR - http://adc.bmj.com/content/90/suppl_2/A64.abstract N2 - 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 years later. The clinical course contained recurrent difficulty with intravenous long lines. After the removal of a … ER -