Liver transplantation in glycogen storage disease type I

被引：0
|
作者：
Susanna JB Boers
Gepke Visser
Peter GPA Smit
Sabine A Fuchs
机构：
[1] University Medical Center Utrecht,Department of Metabolic Diseases, Wilhelmina Children’s Hospital
[2] University Medical Centre Groningen,Beatrix Children’s Hospital
来源：
Orphanet Journal of Rare Diseases | / 9卷
关键词：
Liver Transplantation; Tacrolimus; Poor Metabolic Control; Hepatocyte Transplantation; G6Pase Activity;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Glycogen storage disease type I (GSDI), an inborn error of carbohydrate metabolism, is caused by defects in the glucose-6-transporter/glucose-6-phosphatase complex, which is essential in glucose homeostasis. Two types exist, GSDIa and GSDIb, each caused by different defects in the complex. GSDIa is characterized by fasting intolerance and subsequent metabolic derangements. In addition to these clinical manifestations, patients with GSDIb suffer from neutropenia with neutrophil dysfunction and inflammatory bowel disease.
引用
收藏
相关论文
共 50 条
  • [41] HEMOSTATIC DEFECT IN GLYCOGEN STORAGE DISEASE TYPE I
    GILCHRIST, GS
    FINE, RN
    DONNELL, GN
    ACTA PAEDIATRICA SCANDINAVICA, 1968, 57 (03): : 205 - +
  • [42] Hypovitaminosis D in glycogen storage disease type I
    Banugaria, Suhrad G.
    Austin, Stephanie L.
    Boney, Anne
    Weber, Thomas J.
    Kishnani, Priya S.
    MOLECULAR GENETICS AND METABOLISM, 2010, 99 (04) : 434 - 437
  • [43] Pulmonary hypertension in glycogen storage disease type I
    Kishinani, P
    Bengur, AR
    Chen, YT
    JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (02) : 213 - 216
  • [44] Intestinal function in glycogen storage disease type I
    Visser, G
    Rake, JP
    Kokke, FTM
    Nikkels, PGJ
    Sauer, PJJ
    Smit, GPA
    JOURNAL OF INHERITED METABOLIC DISEASE, 2002, 25 (04) : 261 - 267
  • [45] Vascular Dysfunction in Glycogen Storage Disease Type I
    Bernier, Angelina V.
    Correia, Catherine E.
    Haller, Michael J.
    Theriaque, Douglas W.
    Shuster, Jonathan J.
    Weinstein, David A.
    JOURNAL OF PEDIATRICS, 2009, 154 (04): : 588 - 591
  • [46] Emerging therapies for glycogen storage disease type I
    Koeberl, D. D.
    Kishnani, P. S.
    Bali, D.
    Chen, Y-T.
    TRENDS IN ENDOCRINOLOGY AND METABOLISM, 2009, 20 (05): : 252 - 258
  • [47] INSULIN SECRETION IN TYPE I GLYCOGEN STORAGE DISEASE
    LOCKWOOD, DH
    MERIMEE, TJ
    EDGAR, PJ
    GREENE, ML
    FUJIMOTO, WY
    SEEGMILLER, JE
    HOWELL, RR
    DIABETES, 1969, 18 (11) : 755 - +
  • [48] Brain damage in glycogen storage disease type I
    Melis, D
    Parenti, G
    Della Casa, R
    Sibilio, M
    Romano, A
    Di Salle, F
    Elefante, R
    Mansi, G
    Santoro, L
    Perretti, A
    Paludetto, R
    Sequino, L
    Andria, G
    JOURNAL OF PEDIATRICS, 2004, 144 (05): : 637 - 642
  • [49] Sonographic findings in type I glycogen storage disease
    Pozzato, C
    Botta, A
    Melgara, C
    Fiori, L
    Gianni, ML
    Riva, E
    JOURNAL OF CLINICAL ULTRASOUND, 2001, 29 (08) : 456 - 461
  • [50] INTESTINAL ABSORPTION IN TYPE I GLYCOGEN STORAGE DISEASE
    FINE, RN
    KOGUT, MD
    DONNELL, GN
    JOURNAL OF PEDIATRICS, 1969, 75 (04): : 632 - &
12345