caa a22 4500 467933529 CHVBK 20180406152950.0 cr unu---uuuuu 170328e20060801xx s 000 0 eng 10.1007/s10545-006-0250-y doi (NATIONALLICENCE)springer-10.1007/s10545-006-0250-y Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency [Elektronische Daten] [Ni-Chung Lee, Yin-Hsiu Chien, Keiko Kobayashi, Takeyori Saheki, Huey-Ling Chen, Pao-Chin Chiu, Yen-Hsuan Ni, Mei-Hwei Chang, Wuh-Liang Hwu] Summary: Citrin is a mitochondrial membrane aspartate-glutamate carrier, and citrin deficiency causes both hyperammonaemia in adults (adult-onset type II citrullinaemia, CTLN2) and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), with metabolic derangements in gluconeogenesis, aerobic glycolysis, urea synthesis, UDP-galactose epimerase activity, and possibly fatty acid synthesis and utilization. Through neonatal screening and case review, four patients with NICCD who had an acylcarnitine profile during infancy were all found to have an elevation of free carnitine, C2-carnitine, and long-chain acylcarnitines. These metabolic abnormalities appeared after the rise of citrulline and bilirubin, but before the elevation of alanine aminotransferase and aspartate aminotransferase. Although the rise of free carnitine and acylcarnitines seems to be a benign condition, the sequential changes of these metabolic derangements may give clues to the pathogenesis of this interesting disorder. SSIEM and Springer, 2006 Lee Ni-Chung Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan aut Chien Yin-Hsiu Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan aut Kobayashi Keiko Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan aut Saheki Takeyori Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan aut Chen Huey-Ling Department of Pediatrics, National Taiwan University Hospital, 7 Chung-Shan South Road, 100, Taipei, Taiwan aut Chiu Pao-Chin Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan aut Ni Yen-Hsuan Department of Pediatrics, National Taiwan University Hospital, 7 Chung-Shan South Road, 100, Taipei, Taiwan aut Chang Mei-Hwei Department of Pediatrics, National Taiwan University Hospital, 7 Chung-Shan South Road, 100, Taipei, Taiwan aut Hwu Wuh-Liang Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 551-555 0141-8955 29:4<551 2006 29 10545 https://doi.org/10.1007/s10545-006-0250-y text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0250-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Lee Ni-Chung Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan aut NATIONALLICENCE 700 1- Chien Yin-Hsiu Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan aut NATIONALLICENCE 700 1- Kobayashi Keiko Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan aut NATIONALLICENCE 700 1- Saheki Takeyori Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan aut NATIONALLICENCE 700 1- Chen Huey-Ling Department of Pediatrics, National Taiwan University Hospital, 7 Chung-Shan South Road, 100, Taipei, Taiwan aut NATIONALLICENCE 700 1- Chiu Pao-Chin Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan aut NATIONALLICENCE 700 1- Ni Yen-Hsuan Department of Pediatrics, National Taiwan University Hospital, 7 Chung-Shan South Road, 100, Taipei, Taiwan aut NATIONALLICENCE 700 1- Chang Mei-Hwei Department of Pediatrics, National Taiwan University Hospital, 7 Chung-Shan South Road, 100, Taipei, Taiwan aut NATIONALLICENCE 700 1- Hwu Wuh-Liang Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 551-555 0141-8955 29:4<551 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer