PEDIATRICS Vol. 58 No. 2 August 1976, pp. 227-235
This Article
Right arrow Full Text (PDF)
Right arrow P3Rs: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when P3Rs are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Batshaw, M. L.
Right arrow Articles by Walser, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Batshaw, M. L.
Right arrow Articles by Walser, M.

Long-Term Management of a Case of Carbamyl Phosphate Synthetase Deficiency Using Ketoanalogues and Hydroxyanalogues of Essential Amino Acids

Mark L. Batshaw M.D.1, Saul Brusilow M.D.1, and Mackenzie Walser M.D.1

1 Johns Hopkins Hospital, the John F. Kennedy Institute, and the Departments of Pediatrics, Pharmacology, and Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland

A 13-year-old girl with congenital deficiency of carbamyl phosphate synthetase has been treated intermittently for one year with a restricted protein diet supplemented by various mixtures of the agr-ketoanalogues of valine, leucine, isoleucine, and phenylalanine, the D, L-agr-hydroxyanalogue of methionine, and five amino acids (lysine, arginine, histidine, threonine and tryptophan). Numerous adjustments in the composition of this mixture were made. Eventually normal levels of plasma ammonia and most amino acids were achieved, with three exceptions: slightly increased glutamine, pronounced alloisoleucinemia, and persistently low phenylalanine. Alloisoleucine was shown not to be incorporated into plasma protein and not to be excreted in the urine; hence this abnormality was viewed as being clinically insignificant. Hypophenylalaninemia was unexplained, and failed to respond to increased phenylpyruvate dosage or phenylalanine itself; renal clearance of phenylalanine was high but could not account for the low plasma level. Compared to the pretreatment period her clinical status has improved markedly. Physical and mental development has continued at the same rate. Temporary withdrawal of the supplements led to prompt increases in plasma ammonia, glutamine, and alanine. We conclude that this therapy provides safe and effective long-term management for this patient's disorder and may be useful in other cases of congenital hyperammonemia.

Submitted on August 20, 1975
Accepted on December 11, 1975