Abstract：
Lysinuric protein intolerance (LPI) is an inborn metabolic error caused by cationic amino acid transport defects. The disease has a significant degree of phenotypic variation, with no confirmed genotype-phenotype correlation. Because it presents with symptoms similar to far more common diseases, the diagnosis is often missed, resulting in increased morbidity and mortality. This case series describes three examples of LPI with pulmonary, neurological, and immunological manifestations, emphasising the importance of keeping this disorder on the differential list. Appropriate metabolic and genetic testing is important in providing the correct diagnosis and timely care in such cases.
摘要：
赖氨酸尿蛋白不耐受(LPI)是一种由阳离子氨基酸转运缺陷引起的先天性代谢错误。本病具有显著程度的表型变异，没有证实的基因型-表型相关性。因为它的症状类似于更常见的疾病，诊断经常被遗漏，导致发病率和死亡率增加。这个案例系列描述了三个LPI的例子，神经学,和免疫学表现，强调将这种障碍保留在差异列表中的重要性。在这种情况下，适当的代谢和遗传测试对于提供正确的诊断和及时的护理很重要。
