Homocitrullinuria and homoargininuria in hyperargininaemia.
A four-year-old boy with hyperargininaemia had increased urinary excretion of homocitrulline and homoarginine. A single oral lysine load created a marked increase in these amino acids in plasma. A daily oral lysine supplementation resulted in a remarkable urinary leakage of homocitrulline and homoarginine. These findings suggest that the patient had an enhanced synthesis of these amino acids.
Kato
T
T
Department of Pediatrics, Chubu-Rosai Hospital, Nagoya, Japan.
Sano
M
M
Mizutani
N
N
Hayakawa
C
C
D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism*; D001120:Arginine / Q000031:analogs & derivatives* / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D002956:Citrulline / Q000031:analogs & derivatives* / Q000097:blood / Q000652:urine; D006709:Homoarginine / Q000097:blood / Q000652:urine*; D006801:Humans; D008239:Lysine / Q000378:metabolism; D008297:Male
C001352:homocitrulline; D006709:Homoarginine; D002956:Citrulline; D001120:Arginine; D008239:Lysine