Prospective management of a child with neonatal citrullinemia

Andrew R. Melnyk, Reuben Matalon, Beverly W. Henry, W. Patrick Zeller, Charles Lange

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

A patient with neonatal citrullinemia caused by severe deficiency of argininosuccinate synthetase was treated prospectively according to the currently accepted protocol. We gradually reduced the doses and then discontinued treatment with sodium benzoate and phenylacetate; blood glutamine levels were maintained in the normal range, but ammonia was midly elevated. Growth and development progressed normally through 31 months of age. Some patients with citrullinemia can be successfully managed without daily sodium benzoate and phenylacetate therapy.

Original languageEnglish (US)
Pages (from-to)96-98
Number of pages3
JournalThe Journal of Pediatrics
Volume122
Issue number1
DOIs
StatePublished - Jan 1993
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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