Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. Research Abstract Details 

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Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. Abstract Text:

BACKGROUND: The combination of intravenous sodium phenylacetate and sodium benzoate has been shown to lower plasma ammonium levels and improve survival in small cohorts of patients with historically lethal urea-cycle enzyme defects. METHODS: We report the results of a 25-year, open-label, uncontrolled study of sodium phenylacetate and sodium benzoate therapy (Ammonul, Ucyclyd Pharma) in 299 patients with urea-cycle disorders in whom there were 1181 episodes of acute hyperammonemia. RESULTS: Overall survival was 84% (250 of 299 patients). Ninety-six percent of the patients survived episodes of hyperammonemia (1132 of 1181 episodes). Patients over 30 days of age were more likely than neonates to survive an episode (98% vs. 73%, P<0.001). Patients 12 or more years of age (93 patients), who had 437 episodes, were more likely than all younger patients to survive (99%, P<0.001). Eighty-one percent of patients who were comatose at admission survived. Patients less than 30 days of age with a peak ammonium level above 1000 micromol per liter (1804 microg per deciliter) were least likely to survive a hyperammonemic episode (38%, P<0.001). Dialysis was also used in 56 neonates during 60% of episodes and in 80 patients 30 days of age or older during 7% of episodes. CONCLUSIONS: Prompt recognition of a urea-cycle disorder and treatment with both sodium phenylacetate and sodium benzoate, in conjunction with other therapies, such as intravenous arginine hydrochloride and the provision of adequate calories to prevent catabolism, effectively lower plasma ammonium levels and result in survival in the majority of patients. Hemodialysis may also be needed to control hyperammonemia, especially in neonates and older patients who do not have a response to intravenous sodium phenylacetate and sodium benzoate.

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. Publishing Authors By Initials

For similar organic chemicals: urea research abstracts see: organic chemicals: urea research

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Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. Journal Published:

PUBLICATION TYPE: Research Support, U.S. Gov't,

Journal: The New England journal of medicine

VOLUME: 356

Page Numbers: 2282-92

Journal Abbreviation: N. Engl. J. Med.

ISSN: 1533-4406

DAY: 31

MONTH: May

YEAR: 2007

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 255562

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. Keywords Mesh Terms:

KEYWORDS: Urea

MESH TERMS: metabolism

Chemical & Substance for Abstract: Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. Information

Substance Name: Ammonia

Registry Number: 7664-41-7

Grant and Affiliation Information for Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.

AFFILIATION: Department of Pediatrics, Division of Medical Genetics, Stanford University, School of Medicine, Lucile Packard Children's Hospital, Stanford, CA 94305-5208, USA. greg.enns@stanford.edu

Country: United States

AGENCY: United States NCRR

GRANT: M01-RR-020359

ACRONYM: RR

MEDLINETA: N Engl J Med

REFSOURCE: N Engl J Med. 2007 May 31;356(22):2321-2

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