Ornithine transcarbamylase deficiency in a male: strict correlation between metabolic control and plasma arginine concentration.

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 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.

• Authors: U Wendel, J Wieland, H J Bremer, C Bachmann
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 148 Issue 4 Pg. 349-52 (Jan 1989) ISSN: 0340-6199 [Print] Germany
• PMID: 2707281 (Publication Type: Case Reports, Journal Article)

Chemical References

• Dietary Proteins
• Ammonia
• Arginine

Topics

• Amino Acid Metabolism, Inborn Errors (diet therapy, enzymology, genetics)
• Ammonia (blood)
• Arginine (administration & dosage, blood)
• Dietary Proteins (administration & dosage)
• Genetic Carrier Screening
• Humans
• Infant
• Male
• Ornithine Carbamoyltransferase Deficiency Disease