Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate–glutamate carrier

Citrin, encoded by SLC25A13, is a liver-type mitochondrial aspartate-glutamate carrier (AGC), of which deficiency, in autosomal recessive trait, causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). NICCD patients have jaundice, hypoproteinemia, hypoglycemia...

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Veröffentlicht in:	Hepatology research 2005-10, Vol.33 (2), p.181-184
Hauptverfasser:	Saheki, Takeyori, Kobayashi, Keiko, Iijima, Mikio, Moriyama, Mitsuaki, Yazaki, Masahide, Takei, Yo-ichi, Ikeda, Shu-ichi
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult-onset type II citrullinemia (CTLN2) Aspartate–glutamate carrier Citrin Hyperammonemia NADH shuttle Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
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