Suggested guidelines for the diagnosis and management of urea cycle disorders

Suggested guidelines for the diagnosis and management of urea cycle disorders

<p>Abstract</p> <p>Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one activating enzyme and one mitochondrial ornithine/citrulline antiporter) with an...

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Bibliographic Details
Main Authors: Häberle Johannes, Boddaert Nathalie, Burlina Alberto, Chakrapani Anupam, Dixon Marjorie, Huemer Martina, Karall Daniela, Martinelli Diego, Crespo Pablo, Santer René, Servais Aude, Valayannopoulos Vassili, Lindner Martin, Rubio Vicente, Dionisi-Vici Carlo
Format: Article
Language:English
Published: BMC 2012-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Urea cycle disorders
UCD
Hyperammonemia
N-acetylglutamate synthase
Carbamoylphosphate synthetase 1
Ornithine transcarbamylase
Ornithine carbamoyl transferase
Argininosuccinate synthetase
Argininosuccinate lyase
Arginase 1
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Online Access:http://www.ojrd.com/content/7/1/32

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http://www.ojrd.com/content/7/1/32

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