Urea cycle defect: a case with MR and CT findings resembling infarct.
A 2 1/2 year old girl was admitted to the hospital because of recurrent vomitting, impaired consciousness, and hyperammonemia. MR and CT findings resembled an infarct, but she was found to have a defect in the urea cycle, partial ornithine transcarbamylase deficiency.
Mamourian
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AC
Department of Radiology, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey.
du Plessis
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D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D000641:Ammonia / Q000097:blood; D002544:Cerebral Infarction / Q000175:diagnosis* / Q000209:etiology / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D014057:Tomography, X-Ray Computed; D014508:Urea / Q000378:metabolism*
D000641:Ammonia; D014508:Urea