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J Pediatr. 2001 Jan;138(1 Suppl):S30-9.

Current strategies for the management of neonatal urea cycle disorders.

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  • 1Division of Medical Genetics, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee 37232-2578, USA.

Abstract

The treatment of newborns with urea cycle disorders has evolved over the years into a complex multidisciplinary effort. The complexity derives from the number of issues that must be addressed simultaneously. At the Urea Cycle Disorders Consensus Meeting held in Washington, D.C., a panel of physicians and other professionals with extensive experience in this field was assembled to bring some systematization to this task. This manuscript is a condensation of the collective opinion and experience of that group. The outcome of untreated or poorly treated patients with urea cycle disorders is universally bad. Although a favorable outcome is not always feasible, even with the best therapy, the methods outlined here should help treat such a patient by drawing on the experience of others who have treated patients with urea cycle disorders. This article does not purport to be the final word in treating children with these disorders. However, by establishing some common ground, new methods can be tried and compared with existing ones. In a future that holds the prospect of gene therapy "cures" for these diseases, striving for the best possible outcome in the critical newborn period is a worthy goal.

PMID:
11148547
[PubMed - indexed for MEDLINE]
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