Carnitine deficiency in lysinuric protein intolerance: lysine-sparing effect of carnitine.
Plasma carnitine deficiency (41% of normal control) was found in a 9 year-old boy with lysinuric protein intolerance. Following oral carnitine administration, the plasma level of lysine as well as carnitine has significantly increased (p less than 0.05). His well-being seemed to have improved on this substitutive remedy. Hitherto unrevealed these findings on LPI indicate that carnitine has a lysine-sparing effect and suggest that there might be a biosynthetic pathway of carnitine directly from free lysine in human.
D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy / Q000378:metabolism*; D002331:Carnitine / Q000008:administration & dosage / Q000097:blood / Q000172:deficiency*; D002648:Child; D006801:Humans; D008239:Lysine / Q000097:blood / Q000172:deficiency* / Q000652:urine; D008297:Male
D008239:Lysine; D002331:Carnitine