Suggested guidelines for the diagnosis and management of urea cycle disorders.

Häberle, Johannes; Boddaert, Nathalie; Burlina, Alberto; Chakrapani, Anupam; Dixon, Marjorie; Huemer, Martina; Karall, Daniela; Martinelli, Diego; Sanjurjo Crespo, Pablo; Santer, René; Servais, Aude; Valayannopoulos, Vassili; Lindner, Martin; Rubio, Vicente; Dionisi-Vici, Carlo

doi:10.1186/1750-1172-7-32

Public

Suggested guidelines for the diagnosis and management of urea cycle disorders.

Published in Orphanet journal of rare diseases • May 29, 2012

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Authors:

Johannes Häberle

,

Nathalie Boddaert

,

Alberto Burlina

Abstract

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 estimated incidence of 1:8.000. Pati...

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