Prospective management of a child with neonatal citrullinemia

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

doi:10.1016/S0022-3476(05)83497-3

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 journal › Article › peer-review

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 language	English (US)
Pages (from-to)	96-98
Number of pages	3
Journal	The Journal of Pediatrics
Volume	122
Issue number	1
DOIs	https://doi.org/10.1016/S0022-3476(05)83497-3
State	Published - Jan 1993
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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AU - Matalon, Reuben

AU - Henry, Beverly W.

AU - Zeller, W. Patrick

AU - Lange, Charles

PY - 1993/1

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AB - 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.

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Prospective management of a child with neonatal citrullinemia

Abstract

ASJC Scopus subject areas

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