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KMID : 0918520090090010007
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Journal of the Korean Society of Inherited Metabolic Disease
2009 Volume.9 No. 1 p.7 ~ p.8
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Clinical and Molecular Characteristics of Korean Patients with Citrin Deficiency
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Ko Jung-Min
Lee Beom-Hee
Jin Hye-Young
Kim Gu-Hwan
Choi Jin-Ho
Yoo Han-Wook
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Abstract
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Citrin is a liver-type mitochondrial aspartate-glutamate carrier, which plays an important role in urea synthesis and translocating cytosolic NADH into mitochondria. It is encoded by SLC25A13 gene on chromosome 7q1.3. Citrin deficiency leads to both neonatal intrahepatic cholestasis by citrin deficiency (NICCD; OMIM #605814) and adult-onset type II citrullinemia (CTLN2; OMIM #603471), and some patients with NICCD develop CTLN2 in their later lives. To date, 14 atients with citrin deficiency have been identified by genetic testing in Asan Medical Center. Their clinical manifestations and genetic findings were investigated.
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