Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids.
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.
Ben-Shalom
Efrat
E
The Metabolic Disease Unit, Faculty of Medicine, Shaare-Zedek Medical Center, Hebrew University, Jerusalem, Israel.
Kobayashi
Keiko
K
Shaag
Avraham
A
Yasuda
Tomotsugu
T
Gao
Hong-Zhi
HZ
Saheki
Takeyori
T
Bachmann
Claude
C
Elpeleg
Orly
O
D000599:Amino Acids, Diamino / Q000378:metabolism*; D020159:Citrullinemia / Q000209:etiology*; D018076:DNA, Complementary; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D066298:In Vitro Techniques; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000172:deficiency* / Q000235:genetics; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000172:deficiency* / Q000235:genetics
D000599:Amino Acids, Diamino; D018076:DNA, Complementary; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; C119629:SLC25A13 protein, human