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 Citations (Scopus)

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 - 1993
Externally publishedYes

Fingerprint

Citrullinemia
Sodium Benzoate
Glutamine
Growth and Development
Ammonia
Reference Values
Therapeutics
phenylacetic acid

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Prospective management of a child with neonatal citrullinemia. / Melnyk, Andrew R.; Matalon, Reuben; Henry, Beverly W.; Zeller, W. Patrick; Lange, Charles.

In: The Journal of pediatrics, Vol. 122, No. 1, 1993, p. 96-98.

Research output: Contribution to journalArticle

Melnyk, Andrew R. ; Matalon, Reuben ; Henry, Beverly W. ; Zeller, W. Patrick ; Lange, Charles. / Prospective management of a child with neonatal citrullinemia. In: The Journal of pediatrics. 1993 ; Vol. 122, No. 1. pp. 96-98.
@article{acf7d44615db4bd2a656b7eb27098745,
title = "Prospective management of a child with neonatal citrullinemia",
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.",
author = "Melnyk, {Andrew R.} and Reuben Matalon and Henry, {Beverly W.} and Zeller, {W. Patrick} and Charles Lange",
year = "1993",
doi = "10.1016/S0022-3476(05)83497-3",
language = "English (US)",
volume = "122",
pages = "96--98",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
number = "1",

}

TY - JOUR

T1 - Prospective management of a child with neonatal citrullinemia

AU - Melnyk, Andrew R.

AU - Matalon, Reuben

AU - Henry, Beverly W.

AU - Zeller, W. Patrick

AU - Lange, Charles

PY - 1993

Y1 - 1993

N2 - 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.

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.

UR - http://www.scopus.com/inward/record.url?scp=0027397949&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027397949&partnerID=8YFLogxK

U2 - 10.1016/S0022-3476(05)83497-3

DO - 10.1016/S0022-3476(05)83497-3

M3 - Article

VL - 122

SP - 96

EP - 98

JO - Journal of Pediatrics

JF - Journal of Pediatrics

SN - 0022-3476

IS - 1

ER -