Lysinuric protein intolerance

Lysinuric protein intolerance
Other namesHyperdibasic aminoaciduria type 2,Cationic aminoaciduria or Familial protein intolerance
Lysine
SpecialtyEndocrinology Edit this on Wikidata

Lysinuric protein intolerance (LPI) is an autosomal recessive[1] metabolic disorder affecting amino acid transport. It is characterised by the body's inability to properly digest and use certain proteins. [2] This condition leads to various metabolic complications and is typically diagnosed in infancy or early childhood.[3]

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.

  1. ^ Simell O, Perheentupa J, Rapola J, Visakorpi JK, Eskelin LE (August 1975). "Lysinuric protein intolerance" (Free full text). The American Journal of Medicine. 59 (2): 229–240. doi:10.1016/0002-9343(75)90358-7. PMID 1155480.
  2. ^ Simell, O. (1990), "Lysinuric Protein Intolerance", Inborn Metabolic Diseases, Berlin, Heidelberg: Springer Berlin Heidelberg, pp. 577–583, doi:10.1007/978-3-662-02613-7_44, ISBN 978-3-662-02615-1, retrieved 2024-07-22
  3. ^ Simell, O. (1990), "Lysinuric Protein Intolerance", Inborn Metabolic Diseases, Berlin, Heidelberg: Springer Berlin Heidelberg, pp. 577–583, doi:10.1007/978-3-662-02613-7_44, ISBN 978-3-662-02615-1, retrieved 2024-07-22