Lysinuric protein intolerance with novel mutations in solute carrier family 7A member 7 in a Chinese family

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-05-17 DOI:10.1002/ped4.12427

Yilin Pang, Feng Huo, Xiao Liu, Yimu Fan, Zhezhe Zhang, Jie Wu, Quan Wang

引用次数: 0

Abstract

Lysinuric protein intolerance (LPI) is a rare genetic disorder caused by mutations in the solute carrier family 7A member 7 (SLC7A7) gene.We presented two siblings with LPI, carrying novel mutations of c.776delT (p.L259Rfs*18) and c.155G>T (p.G52V) in SLC7A7. The younger sibling, preferring protein‐rich foods, showed severe symptoms, including alveolar proteinosis, macrophage activation syndrome, severe diarrhea, and disturbance of consciousness with involuntary movements. In contrast, the elder sibling only had mild symptoms, likely due to aversion to protein‐rich food since toddler age.LPI is a congenital genetic metabolic disease with multi‐system involvement. Initiating appropriate protein‐restricted diet therapy as soon as possible could help prevent the progression of LPI.

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一个中国家庭中溶质运载家族 7A 成员 7 的新型突变导致的赖氨酸尿蛋白不耐受症

溶血尿蛋白不耐受症（LPI）是一种罕见的遗传性疾病，由溶质运载家族 7A 成员 7（SLC7A7）基因突变引起。我们接诊了两例 LPI 患者，他们的 SLC7A7 基因分别发生了 c.776delT (p.L259Rfs*18) 和 c.155G>T (p.G52V)突变。年龄较小的兄弟姐妹偏爱富含蛋白质的食物，表现出严重的症状，包括肺泡蛋白沉着症、巨噬细胞激活综合征、严重腹泻以及意识障碍和不自主运动。相比之下，年长的兄弟姐妹只有轻微症状，这可能是因为他们从幼儿时期就开始厌恶富含蛋白质的食物。LPI 是一种先天性遗传代谢病，会累及多个系统，尽早开始适当的蛋白质限制饮食疗法有助于预防 LPI 的恶化。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.