Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids.
Molecular Genetics and Metabolism
Publication types: Case Reports ; In Vitro
In an infant who suffered from prolonged icterus and hepatocellular dysfunction we detected an increase of citrulline and dibasic amino acids in plasma and urine. The amino acid levels along with all the abnormal liver tests normalized upon replacing breast-milk by formula feeding; there was no relapse after human milk was tentatively reintroduced. A novel mutation, a approximately 9.5-kb genomic duplication, was identified in the citrin gene (SLC25A13) resulting in the insertion of exon 15. No mutation was detected in the CAT2A specific exon of the SLC7A2 gene which encodes for the liver transporter of cationic amino acids. This is the first report of infantile citrin deficiency in non-Asian patients.
Amino Acids, Diamino/metabolism, Citrullinemia/etiology, DNA, Complementary, Fibroblasts/metabolism, Humans, Infant, Male, Membrane Transport Proteins/deficiency, Membrane Transport Proteins/genetics, Mitochondrial Proteins/deficiency, Mitochondrial Proteins/genetics
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