Preliminary study of glyceryl phenylbutyrate therapy for Ornithine transcarbamylase deficiency and a literature review
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目的 探讨苯丁酸甘油酯(GPB)治疗鸟氨酸氨甲酰转移酶缺乏症(OTCD)的有效性和安全性。 方法 选取2020年9月16日与2021年10月31日就诊的2例OTCD患儿为研究对象。观察2例OTCD患儿使用GPB治疗后的临床表现、血氨、肝酶、生长发育情况，结合文献检索分析GPB治疗尿素循环障碍的安全性和有效性。 结果 两例患儿经GPB治疗后，血氨和肝酶在3个月内均降至正常水平。患儿2的运动发育有所改善；患儿1出现一过性手心油脂味和食欲下降，未出现其他不良反应。文献分析显示GPB治疗期间患儿血氨总暴露量更低，高氨血症危象的年发生率降低，蛋白实际摄入量有所增加，不良事件减少。 结论 OTCD患儿应用GPB治疗安全有效。 Objective To evaluate the efficacy and safety of glyceryl phenylbutyrate (GPB) therapy for patients with Ornithine transcarbamylase deficiency (OTCD). Methods Two children with OTCD were selected as the study subjects, and their clinical manifestations, blood ammonia, liver enzymes, growth and development information following the treatment with GPB were retrospectively analyzed. A literature review was also carried out by searching the PubMed database for studies on the GPB treatment for urea cycle disorders. Results With the GPB treatment, the blood ammonia and liver enzyme level in both patients have decreased to the normal range within 3 months. Motor development in child 2 has improved. No adverse reaction was noted, except for transient palmar greasy smell and loss of appetite in child 1. Analysis of the literature showed that patients had lower ammonia exposure, lower annual incidence of hyperammonemic crisis, more actual protein intake and fewer adverse events during GPB treatment. Conclusion GPB is safe and effective for the treatment of OTCD.
Objective To evaluate the efficacy and safety of glyceryl phenylbutyrate (GPB) therapy for patients with Ornithine transcarbamylase deficiency (OTCD). Methods Two children with OTCD were selected as the study subjects, and their clinical manifestations, blood ammonia, liver enzymes, growth and development information following the treatment with GPB were retrospectively analyzed. A literature review was also carried out by searching the PubMed database for studies on the GPB treatment for urea cycle disorders. Results With the GPB treatment, the blood ammonia and liver enzyme level in both patients have decreased to the normal range within 3 months. Motor development in child 2 has improved. No adverse reaction was noted, except for transient palmar greasy smell and loss of appetite in child 1. Analysis of the literature showed that patients had lower ammonia exposure, lower annual incidence of hyperammonemic crisis, more actual protein intake and fewer adverse events during GPB treatment. Conclusion GPB is safe and effective for the treatment of OTCD.
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