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

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

doi:10.1002/ped4.12427

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

Pediatr Investig. 2024 May 17;8(2):149-153. doi: 10.1002/ped4.12427. eCollection 2024 Jun.

Authors

Yilin Pang¹, Feng Huo¹, Xiao Liu¹, Yimu Fan¹, Zhezhe Zhang¹, Jie Wu¹, Quan Wang¹

Affiliation

¹ Emergency Department Emergency Intensive Care Unit, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing China.

Abstract

Introduction: Lysinuric protein intolerance (LPI) is a rare genetic disorder caused by mutations in the solute carrier family 7A member 7 (SLC7A7) gene.

Case presentation: 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.

Conclusion: 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.

Keywords: Diet; Lysinuric protein intolerance; Pulmonary alveolar proteinosis; SLC7A7.

Publication types

Case Reports