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Hepatic cirrhosis in a citrin-deficient infant
2016 Sixth International Conference on Information Science and Technology (ICIST), 2016A 10-month-old female infant was referred to our hospital due to prolonged jaundice over 9 months and fever of 4 days. Physical examination revealed enlargement of the liver and spleen, as well as ascites. Liver ultrasound indicated multiple firm nodules.
Chun-ting Lu +3 more
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Idiopathic eruptive macular pigmentation in a child with citrin deficiency
Pediatrics International, 2016AbstractIdiopathic eruptive macular pigmentation (IEMP) is a rare dermatological disorder with generally unclear etiology and pathogenesis. A 5½‐year‐old girl was referred to hospital with a 10 month history of brown skin rashes. In early infancy, citrin deficiency had been diagnosed with the SLC25A13 genotype c.851_854del4/c.998G > A, but all ...
Chu-Li, Fu +2 more
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Biochemical and molecular characteristics of citrin deficiency in Korean children
Journal of Human Genetics, 2016Mutations in SLC25A13 cause citrin deficiency, which has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) and adult-onset type 2 citrullinemia (CTLN2).
Seak Hee, Oh +5 more
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Aspartate glutamate carrier (citrin) deficiency
2003The mitochondrial inner membrane harbors a set of carrier proteins for metabolite transport that constitute a superfamily of related proteins (Kramer and Palmieri 1992; Walker 1992; Palmieri 1994; Palmieri and van Ommen 1999). Many metabolite transporters or carriers with the feature s of the mitochondrial carrier family are now classified as solute ...
Keiko Kobayashi, Takeyori Saheki
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[Treatment and Pathomechanism of Citrin Deficiency].
Brain and nerve = Shinkei kenkyu no shinpo, 2015Citrin, encoded by SLC25A13, is a component of the malate-aspartate shuttle, which is the main NADH-transporting system in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD), which usually resolves within the first year of life. However, a small number of adults with citrin deficiency develop adult-onset type II citrullinemia
Kiyoshi, Hayasaka +2 more
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Physical and neuropsychological development of children with Citrin deficiency.
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2021To study the physical and neuropsychological development of children with Citrin deficiency (CD).A total of 93 children, aged 1.9-59.8 months, who were diagnosed with CD by SLC25A13 gene analysis in the First Affiliated Hospital of Jinan University from August 2010 to August 2015, were enrolled as subjects.
Ni-Si, Zhang +4 more
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[Progresses and perspectives in the study on citrin deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2008Citrin deficiency causes autosomal recessive disorders including adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The responsive gene of citrin deficiency, SLC25A13, locates on chromosome 7q21.3 and encodes citrin as a liver-type mitochondrial aspartate/glutamate carrier (AGC).
Yao-bang, Lu +4 more
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A tribute to Keiko Kobayashi and her work on citrin deficiency
Molecular Genetics and Metabolism, 2012Article history: Received 3 January 2012 Accepted 3 January 2012 Available online 10 January 2012 risky investigations in infants with neonatal cholestasis, provision of appropriate dietary management and genetic counseling, and long term health surveillance [5].
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Lactate-buffered solutions in patients with citrin deficiency
Canadian Journal of Anesthesia/Journal canadien d'anesthésie, 2022Kun-Ming, Tao, Ling, Shen, Yu-Ming, Sun
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Metabolic basis and treatment of citrin deficiency
Journal of Inherited Metabolic Disease, 2021Kiyoshi Hayasaka
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