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J Pediatr. 2001 Jan;138(1 Suppl):S56-60; discussion S60-1.

Long-term management of patients with urea cycle disorders.

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  • 1Division of Human Genetics and Molecular Biology, Department of Pediatrics, University of Pennsylvania School of Medicine, The Children's Hospital of Philadelphia, Pennsylvania 19104-4399, USA.


The long-term treatment of patients with urea cycle disorders (UCDs) includes diet treatment and use of specific medications. Guidelines are provided for patients with a severe phenotype. However, treatment must be tailored for each individual, especially with regard to residual enzyme function and in vivo metabolic capacity. This will be reflected in tests used for monitoring therapy that should be performed on a periodic basis. The goal of therapy is to eliminate chronic complications, a laudable but rarely attainable goal. Sick-day rules are discussed. Chronic management also includes diverse services that are essential to the success of the metabolic program. These include neurologic and developmental evaluations, feeding team evaluation and therapy, physical and occupational therapies, speech therapy, school and educational services, social service intervention, psychologic services, and genetic counseling.

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