Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis.

ABSTRACT:

Background

Lysinuric protein intolerance is a rare autosomal disorder caused by mutations in the Slc7a7 gene that lead to impaired transport of neutral and basic amino acids. The gold standard treatment for lysinuric protein intolerance involves a low-protein diet and citrulline supplementation. While this approach partially improves cationic amino acid plasma levels and alleviates some symptoms, long-term treatment is suggested to be detrimental and may lead to life-threatening complications characterized by a wide range of hematological and immunological abnormalities. The specific cause of these hematopoietic defects-whether intrinsic to hematopoietic cells or driven by external factors-remains unclear. Given the limitations of current citrulline-based treatments and the unknown

SUBMITTER: Giroud-Gerbetant J 

PROVIDER: S-EPMC11776305 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature