Open AccessAn Adult with Type 2 Citrullinemia Presenting in Europe
Author(s) -
Giuseppe Fiermonte,
Derek Soon,
Abhijit Chaudhuri,
Eleonora Paradies,
Philip Lee,
S. Krywawych,
Ferdinando Palmieri,
Robin Lachmann
Publication year - 2008
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmc0707353
Subject(s) - citrullinemia , medicine , hyperammonemia , encephalopathy , urea cycle , pediatrics , genetics , endocrinology , biology , arginine , amino acid
To the Editor: Type 2 citrullinemia is an adult-onset, autosomal recessive disorder characterized by episodes of hyperammonemic encephalopathy. It is caused by mutations in the SLC25A13 gene, which...
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