Enteral nutrition support for lysinuric protein intolerance: a case report

VernacularTitle:赖氨酸尿性蛋白耐受不良肠内营养支持治疗一例
Author: Jiao QUAN ¹ ; Xiaofeng LIU ; Ke HU ; Qian HOU
Author Information

1. 中南大学湘雅医院营养科，长沙　410008
Keywords: Lysinuric protein intolerance; Alveolar proteinosis; Nutrition support
From: Chinese Journal of Clinical Nutrition 2023;31(6):368-372
CountryChina
Language:Chinese
Abstract: Lysinuric protein intolerance (LPI) is an autosomal recessive disorder caused by defective plasma membrane transport of cationic amino acids (lysine, arginine, and ornithine). LPI is characterized by recurrent vomiting and diarrhea, coma following intake of protein-rich foods, and aversion to high-protein foods, further leading to malnutrition and even death. Some children with LPI also develop alveolar proteinosis. Nutrition support is an important part of treatment. Here we report a case of a 4-year-old girl with LPI, alveolar proteinosis, systemic lupus erythematosus, and cellular immune dysfunction, where nutrition support successfully improved her nutritional status. The relevant literatures are reviewed to provide guidance on the nutritional diagnosis and treatment of LPI.