Attempted dietary treatment of a boy with hyperammonemia due to ornithine transferase deficiency

• Published in: European journal of pediatrics Vol. 128; no. 4; p. 261
• Main Authors: van der Heiden, C, Bakker, H D, Desplanque, J, Brink, M, de Bree, P K, Wadman, S K
• Format: Journal Article
• Language: English
• Published: Germany 01.12.1978
• Subjects: Amino Acid Metabolism, Inborn Errors - diet therapy; Amino Acids - blood; Ammonia - blood; Arginine - therapeutic use; Child, Preschool; Citrates - therapeutic use; Dietary Proteins - administration & dosage; Humans; Lactulose - therapeutic use; Male; Ornithine - therapeutic use; Ornithine Carbamoyltransferase Deficiency Disease
• ISSN: 0340-6199
• DOI: 10.1007/BF00445611

Dietary treatment of a male patient suffering from the delayed-onset type of OCT deficiency was attempted. Control of the hyperammonemia was attempted by restriction of protein intake, guided by monitoring the plasma ammonia and regular checking of the serum amino acid levels. The influence of supplementary citric acid or lactulose therapy on the plasma ammonia level was investigated and found to be negligible. The therapeutic effect of supplying ornithine and arginine (an essential amino acid in urea cycle disorders) is described. Despite intensive dietary treatment over two and a half years, a incorrigible hyperammonemic crisis resulted in the sudden death of our patient.