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J Zhejiang Univ (Med Sci)
    
Consensus on diagnosis and treatment of ornithine transcarbamylase deficiency
Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health
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Abstract  Ornithine transcarbamylase deficiency(OTCD)is a most common urea cycle disorder. It is a X-link inherited disorder caused by OTC gene mutation that in turn leads to reduction or loss of OTC enzyme activity. Its onset time is related to the lack of enzyme activity. Patients with neonatal onset usually have complete absence of OTC enzyme activity, which is mainly associated with male semi-zygotic mutations; and the disease progresses rapidly with high mortality rates. Patients with late onset vary greatly in onset age and clinical manifestations; the course of disease can be progressive or intermittent. The acute attack mainly manifests neuropsychiatric symptoms accompanied by digestive symptoms and liver function damage or even acute liver failure. Elevated blood ammonia is the main biochemical indicator of OTCD patients. This biochemical phenotype (increased glutamine and decreased citrulline in blood, increased orotic acid in urine) is classical for OTCD patients. Genetic testing of OTC gene is an important basis for OTCD diagnosis. The goal of treatment is to minimize the neurological damage caused by hyperammonemia while ensuring the nutritional needs for patient development. For patients with poor response to medication and diet, liver transplantation is recommended under the condition of stable metabolic state and absence of severe neurological damage. During long-term treatment, physical growth indicators, nutrition status, liver function and blood ammonia and amino acids should be regularly monitored. This consensus is conducive to standardize the diagnosis and treatment of OTCD, improve the prognosis, reduce the mortality and disability of patients.

Key wordsOrnithine carbamoyltransferase deficiency disease      Hyperammonemia      Diagnosis      Treatment     
Received: 19 December 2019      Published: 29 May 2020
CLC:  R41  
Cite this article:

Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health. Consensus on diagnosis and treatment of ornithine transcarbamylase deficiency. J Zhejiang Univ (Med Sci), 0, 0(0): 7-0.

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http://www.zjujournals.com/med/10.3785/j.issn.1008-9292.2020.04.11     OR     http://www.zjujournals.com/med/Y0/V0/I0/7


鸟氨酸氨甲酰转移酶缺乏症诊治专家共识

鸟氨酸氨甲酰转移酶(OTC)缺乏症(OTCD)是由OTC基因突变引起OTC酶活性降低或缺失而导致的最常见的尿素循环障碍疾病,为X连锁遗传病。其发病时间与酶活性缺乏程度有关,新生儿期起病型患者通常为OTC酶活性完全丧失,多为男性半合子突变,起病急且进展迅速,死亡率高;迟发型患者发病年龄及临床表现个体差异较大,病程可为渐进性或间歇性,急性发作以神经精神症状为主要表现,同时可伴有肝功能损害甚至急性肝衰竭等消化系统症状。血氨升高是OTCD患者的主要生化异常指标,典型OTCD患者的血液谷氨酰胺增高伴瓜氨酸降低,尿乳清酸显著增加,OTC基因突变是OTCD确诊的重要依据。治疗目标需要尽可能降低高氨血症造成的神经系统损害,同时保证患者发育所需的营养需求。对于药物和饮食治疗效果不佳的患者,建议在代谢状态稳定且没有严重神经系统损伤的条件下进行肝移植。在长期治疗过程中,定期监测体格生长指标、营养摄入情况和血氨、血脂、肝功及氨基酸等生化指标。该共识有助于规范OTCD的诊治,以改善患者预后和减少死亡及残障。

关键词: 鸟氨酸氨甲酰转移酶缺乏症,  高氨血症,  诊断,  治疗 
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