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：
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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.
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