Shapiro J M, Schaffner F, Tallan H H, Gaull G E
Pediatr Res. 1980 May;14(5):735-9. doi: 10.1203/00006450-198005000-00006.
Deficiency of hepatic ornithine transcarbamylase (EC 2.1.3.3) activity in a 17-month-old female patient is described. Enzyme activity was 11% of the mean control value. Electron microscopic examination of the liver specimen, taken by percutaneous needle biopsy, revealed striking abnormalities of the mitochondria: bud-like projections, sausage-link appearance, elongation with short cristae, or the presence of parallel arrays of tubules. The abnormalities do not resemble those seen in Reye's syndrome.
描述了一名17个月大女性患者肝脏鸟氨酸转氨甲酰酶（EC 2.1.3.3）活性缺乏的情况。酶活性为平均对照值的11%。经皮肝穿刺活检获取的肝脏标本的电子显微镜检查显示线粒体有明显异常：芽状突起、腊肠样外观、短嵴的伸长或平行排列的小管的存在。这些异常与瑞氏综合征中所见的不同。
