Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman
Abstract Lysinuric protein intolerance (LPI), caused by pathogenic variants of SLC7A7, is characterized by protein aversion, failure to thrive, hyperammonemia, and hepatomegaly. Recent studies have reported that LPI can cause multiple organ dysfunctions, including kidney disease, autoimmune deficien...
Main Authors: | , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2023-11-01
|
Series: | JIMD Reports |
Subjects: | |
Online Access: | https://doi.org/10.1002/jmd2.12392 |