Lysinuric protein intolerance
| Lysinuric protein intolerance | |
|---|---|
| Other names | Hyperdibasic aminoaciduria type 2,Cationic aminoaciduria or Familial protein intolerance |
| Lysine | |
| Specialty | Endocrinology |
Lysinuric protein intolerance (LPI) is an autosomal recessive metabolic disorder affecting amino acid transport. It is characterised by the body's inability to properly digest and use certain proteins. This condition leads to various metabolic complications and is typically diagnosed in infancy or early childhood.
About 140 patients have been reported, almost half of them of Finnish origin. Individuals from Japan, Italy, Morocco and North Africa have also been reported plus one in Bixby, Oklahoma.