Ornithine transcarbamylase deficiency in a male: strict correlation between metabolic control and plasma arginine concentration.
In a male with a partial defect of ornithine transcarbamylase (OTC) we observed that maintenance of arginine supply was crucial for adequate metabolic control in conjunction with a low protein diet. The arginine supplement had to be given such that the concentrations of arginine and ornithine in plasma were above 50 mumol/l. It appears that arginine is needed not only as an essential amino acid for protein synthesis but also as a precursor of ornithine. In this patient the substitution thus aimed at increasing the intramitochondrial ornithine in order to reach a critical substrate concentration for the kinetically abnormal OTC.
Wendel
U
U
Universitäts-Kinderklinik, Düsseldorf, Federal Republic of Germany.
Wieland
J
J
Bremer
H J
HJ
Bachmann
C
C
D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy / Q000201:enzymology / Q000235:genetics*; D000641:Ammonia / Q000097:blood; D001120:Arginine / Q000008:administration & dosage / Q000097:blood*; D004044:Dietary Proteins / Q000008:administration & dosage; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease
D004044:Dietary Proteins; D000641:Ammonia; D001120:Arginine