Sonmez G, Mutlu H, Ozturk E, Sildiroglu H O, Keskin A T, Basekim C C, Kizilkaya E
Department of Radiology, GATA Haydarpasa Teaching Hospital, Istanbul, Turkey.
Acta Radiol. 2007 Jun;48(5):557-9. doi: 10.1080/02841850701280874.
Glutaric aciduria or glutaric acidemia type I, an autosomal recessive disease, usually presents with an acute encephalopathic crisis in young children. We report the magnetic resonance (MR) and proton MR spectroscopy (MRS) imaging findings of a previously healthy 20-year-old man who presented with recurrent headaches. Organic acids from the patient's urine contained large amounts of adipate, glutarate, and 3-hydroxyglutarate consistent with glutaric aciduria type I.
戊二酸尿症或I型戊二酸血症是一种常染色体隐性疾病，通常在幼儿期表现为急性脑病危象。我们报告了一名此前健康的20岁男性反复头痛的磁共振（MR）和质子磁共振波谱（MRS）成像结果。患者尿液中的有机酸含有大量己二酸、戊二酸和3-羟基戊二酸，符合I型戊二酸尿症。
