1.A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene.
So Yoon CHOI ; Ben KANG ; Jae Young CHOE ; Yoon LEE ; Hyo Jeong JANG ; Hyung Doo PARK ; Suk Koo LEE ; Yon Ho CHOE
Pediatric Gastroenterology, Hepatology & Nutrition 2018;21(4):365-368
Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV is associated with mutations in GBE1, which encodes the glycogen branching enzyme. We report a case of GSD IV with rare homozygous mutations in the GBE1 gene (c.791G>A (p.Gly264Glu), which was successfully treated by liver transplantation.
1,4-alpha-Glucan Branching Enzyme*
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Clinical Coding
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Glycogen Storage Disease Type IV
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Glycogen Storage Disease*
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Glycogen*
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Liver Diseases
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Liver Transplantation
2.Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation.
Hye Ryun BAN ; Kyung Mo KIM ; Joo Young JANG ; Gu Hwan KIM ; Han Wook YOU ; Kyungeun KIM ; Eunsil YU ; Dae Yeon KIM ; Ki Hun KIM ; Young Joo LEE ; Sung Gyu LEE ; Young Nyun PARK ; Hong KOH ; Ki Sup CHUNG
Gut and Liver 2009;3(1):60-63
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues. We treated a 20-month-old girl who presented with progressive liver cirrhosis and was diagnosed with GSD-IV, as confirmed by GBE1 gene mutation analysis, and underwent living related heterozygous donor liver transplantation. Direct sequencing of the GBE1 gene revealed that the patient was compound heterozygous for a known c.1571G>A (p.Gly264Glu) mutation a novel c.791G> A (Arg524Gln) mutation. This is the first report of a Korean patient with GSD-IV confirmed by mutation analysis, who was treated successfully by liver transplantation.
1,4-alpha-Glucan Branching Enzyme
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Child
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Glycogen
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Glycogen Storage Disease
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Glycogen Storage Disease Type IV
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Humans
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Infant
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Liver
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Liver Cirrhosis
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Liver Transplantation
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Living Donors
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Tissue Donors
3.Infant glycogen storage disease type Ⅳ: a clinicopathological and genetic characteristics analysis of five cases.
Chinese Journal of Pathology 2023;52(12):1255-1260
Objective: To investigate the clinical pathology and gene mutation characteristics of patients with glycogen storage disease type Ⅳ (GSD Ⅳ). Methods: The clinical data, liver histopathology and ultrastructural morphology, and gene sequencing results of 5 GSD Ⅳ cases diagnosed in the Children's Hospital Affiliated to Shanghai Jiaotong University School of Medicine and the Children's Hospital of Fudan University from January 2015 to February 2022 were collected and analyzed retrospectively. Results: Among the 5 cases, 3 were male and 2 were female, ranging in age from 4 months to 1 year and 9 months. The clinical manifestations included fever, hepatosplenomegaly, liver insufficiency, growth retardation and hypotonia. Four cases had liver biopsy showing ground-glass-like changes in hepatocytes with intracytoplasmic inclusion bodies and varying degrees of fibrosis. Liver electron microscopy in 2 cases showed that the level of glycogen increased to varying degrees, and the cytoplasm was filled with low electron density substances. Genetic testing revealed that 3 cases had compound heterozygous variants in GBE1 gene; 1 case had a single pathogenic variant in GBE1 gene; and 1 case was deceased with no genetic testing, but each parent was tested for a heterozygous variant in the GBE1 gene. A total of 9 GBE1 gene mutations were detected, 3 of which were reported mutations and 6 novel mutations. One case died of liver cirrhosis, and 1 case underwent autologous liver transplantation. After transplantation, the liver function basically returned to normal, and the growth and development improved; the other 3 cases were managed through diet control and symptomatic treatment. Conclusions: CSD Ⅳ is an extremely rare inherited metabolic disease caused by GBE1 gene mutation, often presenting with hepatic and neuromuscular disorders, with heterogeneous clinical manifestations. The diagnosis mainly depends on histopathology and a pedigree gene analysis.
Infant
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Child
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Humans
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Male
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Female
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Glycogen Storage Disease Type IV/pathology*
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Retrospective Studies
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China
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Mutation
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Genetic Testing/methods*