[Protein intolerance with lysinuria. Value of orotic aciduria in adjusting treatment with citrulline].
A new case of lysinuric protein intolerance is described in a 14 year-old Maghrebian child who presented with growth failure, vertebral osteoporosis, aversion to proteins and digital hippocratism, rarely described in this disease. Orotic aciduria was studied after a protein load with and without citrulline supplement and during the course of a 11 month-treatment. There was a clear relationship between orotic aciduria, protein intake and citrulline supplementation. Orotic aciduria appears to be very useful to adjust the treatment.
de Parscau
L
L
L'Unité d'Etudes des Maladies Métaboliques, Hôpital Debrousse, Lyon.
Vianey-Liaud
C
C
Hermier
M
M
Divry
P
P
Guibaud
P
P
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy* / Q000652:urine; D000596:Amino Acids / Q000032:analysis; D000599:Amino Acids, Diamino / Q000378:metabolism; D000641:Ammonia / Q000097:blood; D001692:Biological Transport; D002462:Cell Membrane / Q000378:metabolism; D002956:Citrulline / Q000627:therapeutic use*; D003241:Consanguinity; D004044:Dietary Proteins; D006801:Humans; D008239:Lysine / Q000652:urine*; D008297:Male; D009963:Orotic Acid / Q000652:urine*; D010024:Osteoporosis / Q000209:etiology
D000596:Amino Acids; D000599:Amino Acids, Diamino; D004044:Dietary Proteins; D002956:Citrulline; D009963:Orotic Acid; D000641:Ammonia; D008239:Lysine
Intolérance aux protéines avec lysinurie. Intérêt de l'acidurie orotique pour l'adaptation du traitement par la citrulline.