PDF(Pubmed)
Abstract：
We report on a family with ornithine transcarbamylase (OTC) deficiency, an X-linked urea cycle disorder, with variable disease severity and tailored management strategies based on each family member\'s biochemical profile and clinical presentation. Our primary patient is a female monozygotic twin who presented to medical care at 10 months of age with acute liver failure, gastrointestinal symptoms, altered mental status, hypoglycemia, and hyperammonemia. The patient\'s older brother, known to have hemizygous OTC deficiency, died at 8 months of age from cardiac arrest after complications secondary to his diagnosis. Despite her family history, manifestation of symptoms of heterozygous (partial) OTC deficiency went unrecognized by multiple providers based on misconceptions regarding a female\'s risk for X-linked disease. Despite barriers related to the family\'s low socioeconomic status, follow-up care by a multidisciplinary metabolic care team, including moderate protein restriction and nitrogen scavenger therapy, led to positive outcomes for the patient. Her twin sister and mother are also heterozygous for variants in OTC and remain controlled on moderate protein restriction. This case illustrates the importance of genotyping all individuals with genetic risk factors for OTC deficiency and the variability in disease manifestation that necessitates tailored treatment approaches for individuals with partial OTC deficiency.
摘要：
我们报道了一个鸟氨酸转碳淀粉酶（OTC）缺乏症的家庭，X-连锁尿素循环紊乱,根据每个家庭成员的生化特征和临床表现，具有不同的疾病严重程度和量身定制的管理策略。我们的主要患者是一名女性单卵双胞胎，她在10个月大时因急性肝功能衰竭接受医疗护理，胃肠道症状,精神状态改变,低血糖,和高氨血症。病人的哥哥，已知患有半合子OTC缺乏症，在8个月大时死于心脏骤停后继发于他的诊断并发症。尽管她有家族史,基于对女性X连锁疾病风险的误解,多个医疗服务提供者未认识到杂合性(部分)OTC缺乏症的症状表现.尽管与家庭的低社会经济地位有关的障碍，多学科代谢护理团队的后续护理，包括适度的蛋白限制和氮清除剂治疗，为患者带来积极的结果。她的双胞胎姐姐和母亲也是OTC变异的杂合子，并且在适度的蛋白质限制下保持受控。该案例说明了对所有具有OTC缺乏症遗传风险因素的个体进行基因分型的重要性，以及疾病表现的变异性，这需要为部分OTC缺乏症的个体提供量身定制的治疗方法。
