Wells Diana L, Thomas Jillian B, Sacks Gordon S, Zouhary L Anna
Auburn University Harrison School of Pharmacy, Auburn, Alabama, USA and East Alabama Medical Center, Opelika, Alabama, USA.
Auburn University Pharmaceutical Care Center, Auburn, Alabama, USA.
Nutrition. 2014 Jul-Aug;30(7-8):943-7. doi: 10.1016/j.nut.2013.12.011. Epub 2013 Dec 16.
Urea cycle disorders (UCDs) most often involve inherited deficiencies in genes that code for enzymes normally used by the urea cycle to breakdown nitrogen. UCDs lead to serious metabolic complications, including severe neurologic decompensation related to hyperammonemia. Although the majority of UCDs are revealed soon after birth, stressful events in adulthood can lead to unmasking of a partial, late-onset UCDs. In this report, we describe a late-onset UCD unmasked by severe malnutrition. Early, specialized nutrition therapy is a fundamental aspect of treating hyperammonemic crises in patients with UCD. The case presented here demonstrates the importance of early recognition of UCD and appropriate interventions with nutrition support.
尿素循环障碍（UCDs）最常涉及编码尿素循环中正常用于分解氮的酶的基因的遗传性缺陷。UCDs会导致严重的代谢并发症，包括与高氨血症相关的严重神经功能代偿失调。尽管大多数UCDs在出生后不久就会被发现，但成年期的应激事件可能导致部分迟发性UCDs被暴露出来。在本报告中，我们描述了一例因严重营养不良而暴露的迟发性UCD。早期、专门的营养治疗是治疗UCD患者高氨血症危象的一个基本方面。这里介绍的病例证明了早期识别UCD和进行适当营养支持干预的重要性。
