p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency

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Seker-Yilmaz B., KOR D., TÜMGÖR G., Ceylaner S., Onenli-Mungan N.

TURKISH JOURNAL OF PEDIATRICS, cilt.59, sa.3, ss.311-314, 2017 (SCI-Expanded, Scopus, TRDizin)

Özet

Citrin deficiency is an autosomal recessive metabolic disorder, which is caused by pathogenic mutations in the SLC25A13 gene on chromosome 7q21.3, as the causative gene that encodes the liver type aspartate/glutamate carrier isoform 2 (AGC2). One of the main clinical presentations is neonatal intrahepatic cholestatic hepatitis caused by citrin deficiency.