Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Gene. 2013 Sep 15;527(1):394-6. doi: 10.1016/j.gene.2013.03.096. Epub 2013 Jun 12.
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder. Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder and demonstrates X-linked inheritance. In female OTC deficiency, phenotypes are variable according to X-inactivation patterns. These disorders develop separately, and their co-morbidity is extremely rare. We report one girl with CAH showing recurrent hyperammonemia and hepatitis after 2 years-of-age due to additional OTC deficiency.
先天性肾上腺皮质增生症（CAH）由于 21-羟化酶缺乏是一种常见的常染色体隐性遗传疾病。鸟氨酸转氨甲酰酶（OTC）缺乏症是最常见的尿素循环障碍，呈 X 连锁遗传。在女性 OTC 缺乏症中，表型根据 X 染色体失活模式而变化。这些疾病是独立发展的，它们的合并症极为罕见。我们报告了一例女孩，她患有 CAH，2 岁后因额外的 OTC 缺乏而出现反复高氨血症和肝炎。
