title: [Inborn errors of lysine metabolism].
abstract: A wide variety of inborn errors of lysine catabolism have been described. They include: abnormalities of the mitochrondrial catabolism via the "saccharopine pathway", abnormalities of the peroxisomal catabolism via the pipecolic pathway, and "lysine intolerance with periodic ammonia intoxication" linked to urea cycle pathway. These inborn errors are associated with a wide variety of clinical symptoms and biochemical profiles as persistent hyperlysinemia, saccharopinuria, "amino and ketoadipic aciduria, and glutaric aciduria.
authors.affiliation: Unité d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon.
authors.forename: P
authors.initials: P
authors.lastname: Divry
authors.forename: C
authors.initials: C
authors.lastname: Vianey-Liaud
authors.forename: M
authors.initials: M
authors.lastname: Mathieu
mesh_terms: D015074:2-Aminoadipic Acid / Q000097:blood; D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005977:Glutarates / Q000097:blood; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008239:Lysine / Q000031:analogs & derivatives / Q000097:blood / Q000378:metabolism* / Q000652:urine; D008297:Male; D010875:Pipecolic Acids / Q000097:blood
chemical_list: D005977:Glutarates; D010875:Pipecolic Acids; D015074:2-Aminoadipic Acid; D008239:Lysine; C100169:saccharopine
vernacular_title: Erreurs innées du métabolisme de la lysine.