Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood

被引:25
作者
Hachisu, M
Oda, Y
Goto, M
Kobayashi, K
Saheki, T
Ohura, T
Noma, S
Kitanaka, S
机构
[1] Univ Tokyo, Grad Sch Med, Dept Paediat, Bunkyo Ku, Tokyo 1138655, Japan
[2] Tokyo Metropolitan Hachioji Childrens Hosp, Tokyo, Japan
[3] Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Mol Metab & Biochem Genet, Kagoshima 890, Japan
[4] Tohoku Univ, Sch Med, Dept Paediat, Sendai, Miyagi 980, Japan
关键词
D O I
10.1007/s00431-004-1549-z
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
[No abstract available]
引用
收藏
页码:109 / 110
页数:2
相关论文
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  • [1] Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease
    Imamura, Y
    Kobayashi, K
    Shibatou, T
    Aburada, S
    Tahara, K
    Kubozono, O
    Saheki, T
    [J]. HEPATOLOGY RESEARCH, 2003, 26 (01) : 68 - 72
  • [2] The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
    Kobayashi, K
    Sinasac, DS
    Iijima, M
    Boright, AP
    Begum, L
    Lee, JR
    Yasuda, T
    Ikeda, S
    Hirano, R
    Terazono, H
    Crackower, MA
    Kondo, I
    Tsui, LC
    Scherer, SW
    Saheki, T
    [J]. NATURE GENETICS, 1999, 22 (02) : 159 - 163
  • [3] A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency
    Ohura, T
    Kobayashi, K
    Abukawa, D
    Tazawa, Y
    Aikawa, J
    Sakamoto, O
    Saheki, T
    Iinuma, K
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 2003, 162 (05) : 317 - 322
  • [4] Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)
    Saheki, T
    Kobayashi, K
    [J]. JOURNAL OF HUMAN GENETICS, 2002, 47 (07) : 333 - 341
  • [5] Possible clinical and histologic manifestations of adult-onset type II citrullinenia in early infancy
    Tomomasa, T
    Kobayashi, K
    Kaneko, H
    Shimura, H
    Fukusato, T
    Tabata, M
    Inoue, Y
    Ohwada, S
    Kasahara, M
    Morishita, Y
    Kimura, M
    Saheki, T
    Morikawa, A
    [J]. JOURNAL OF PEDIATRICS, 2001, 138 (05) : 741 - 743
  • [6] Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations
    Yamaguchi, N
    Kobayashi, K
    Yasuda, T
    Nishi, I
    Iijima, M
    Nakagawa, M
    Osame, M
    Kondo, I
    Saheki, T
    [J]. HUMAN MUTATION, 2002, 19 (02) : 122 - 130