Abstract
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 50μmol/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.
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Abbreviations
- OTC:
-
ornithine transcarbamylase
References
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Wendel, U., Wieland, J., Bremer, H.J. et al. Ornithine transcarbamylase deficiency in a male: strict correlation between metabolic control and plasma arginine concentration. Eur J Pediatr 148, 349–352 (1989). https://doi.org/10.1007/BF00444132
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DOI: https://doi.org/10.1007/BF00444132