Gao Jiandi, Gao Feng, Hong Fang, Yu Huimin, Jiang Peifang
Department of Neurology, Children's Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China.
Department of Neurology, Children's Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China.
Am J Emerg Med. 2015 Mar;33(3):474.e1-3. doi: 10.1016/j.ajem.2014.08.038. Epub 2014 Aug 23.
Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder of metabolism of the urea cycle. It usually causes hyperammonemic encephalopathy in males during the neonatal to-infantile period, whereas female carriers present with variable manifestations depending on their pattern of random chromosome X inactivation in the liver. Early clinical manifestations of hyperammonemiaare nonspecific often leading to a delay in the diagnosis of OTCD.Unfortunately, delays in initiating treatment often lead to poor neurologic outcomes and overall survival. Presentation of hyperammonemic encephalopathy in children with OTCD is rare, and the mortality and morbidity rates are high. The diagnosis of OTCD and aggressive management of hyperammonemia were of paramount importance for appropriate treatment and successful recovery. Here, we report theclinical, biochemical, and molecular findings in a child with OTCD who presented with acute hyperammonemic encephalopathy.
鸟氨酸转氨甲酰酶缺乏症（OTCD）是一种尿素循环代谢的X连锁疾病。它通常在新生儿至婴儿期导致男性发生高氨血症性脑病，而女性携带者的表现则因肝脏中随机X染色体失活模式的不同而有所差异。高氨血症的早期临床表现不具特异性，常导致OTCD诊断延迟。不幸的是，治疗开始延迟往往会导致不良的神经学预后和总体生存率。OTCD患儿出现高氨血症性脑病的情况罕见，死亡率和发病率都很高。OTCD的诊断以及高氨血症的积极管理对于恰当治疗和成功康复至关重要。在此，我们报告一名患有OTCD并出现急性高氨血症性脑病患儿的临床、生化和分子学检查结果。
