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.The main nutrients digestibility of genetically modified rice and parental rice in the terminal ileum of pigs.
Min LI ; Yi-chun HU ; Jian-hua PIAO ; Xiao-guang YANG
Chinese Journal of Preventive Medicine 2010;44(10):913-917
OBJECTIVETo compare the digestibility of main nutrients in genetically modified rice with double antisense starch-branching enzyme gene and parental rice.
METHODSSeven Wuzhishan healthy adult barrows were surgically fitted with a T-cannula at the terminal ileum. After surgery, seven pigs were randomly divided into two groups, and fed genetically modified rice and parental rice by a crossover model. Ileal digesta were collected for analysis of main nutrient digestibility.
RESULTSThe apparent digestibility levels of protein in genetically modified rice and parental rice were 69.50% ± 4.50%, 69.61% ± 8.40%, respectively (t = 0.01, P = 0.994); true digestibility levels of protein were 87.55% ± 4.95%, 87.64% ± 9.40%, respectively (t = 0.01, P = 0.994); fat digestibility levels were 72.86% ± 0.34%, 77.89% ± 13.09%, respectively (t = 0.95, P = 0.378); carbohydrate digestibility levels were 72.92% ± 7.43%, 92.35% ± 5.88%, respectively (t = 4.27, P = 0.005). The apparent and true digestibility of 17 amino acids had no significant difference in the two rice.
CONCLUSIONCarbohydrate digestibility in genetically modified rice was significantly lower than that in non-genetically modified rice, other main nutrients digestibility in the two rice have substantial equivalence.
1,4-alpha-Glucan Branching Enzyme ; metabolism ; Animals ; Carbohydrate Metabolism ; Digestion ; Food ; Ileum ; metabolism ; Intestinal Absorption ; Oryza ; chemistry ; Plants, Genetically Modified ; chemistry ; Starch ; metabolism ; Swine ; metabolism
4.A novel M142T mutation in the B glycosyltransferase gene associated with B3 variant in Chinese.
Xian-guo XU ; Xiao-zhen HONG ; Ying LIU ; Fa-ming ZHU ; Hang-jun LV ; Li-xing YAN
Chinese Journal of Medical Genetics 2009;26(3):254-257
OBJECTIVETo investigate the molecular genetic basis of the B3 variant of ABO blood group system with mixed-field hemagglutination in Chinese.
METHODSSerological techniques were performed to characterize the erythrocyte phenotype of two discrepant samples. A sequential agglutination method and 13 short tandem repeat (STR) loci were tested to exclude the possibility of exogenous or endogenous DNA chimera. Mutations in exons 6 and 7, including partial intron of the ABO gene, were screened by polymerase chain reaction and DNA sequencing. Haplotypes of the two individuals were also analyzed by sequencing.
RESULTSA mixed-field hemagglutination of RBCs with anti-B and anti-AB antibodies was detected in the two unrelated individuals. Exogenous ABO-incompatible RBC transfusion and endogenous genetic chimera were excluded by sequential agglutination method and STR. The ABO phenotypes of the two individuals were classified as A1B3 according to the ABO subgroup definition. The sequence region from intron 5 to 3'-UTR of the B allele was identical to that of ABO*B101 allele, except for a T to C substitution at nucleotide position 425 in exon 7. This substitution resulted in an amino acid change of M142T in the B glycosyltransferase.
CONCLUSIONA novel B allele with 425T>C substitution resulting in B3 subgroup was identified in two Chinese individuals.
1,4-alpha-Glucan Branching Enzyme ; genetics ; ABO Blood-Group System ; genetics ; Alleles ; Amino Acid Sequence ; Amino Acid Substitution ; Animals ; Asian Continental Ancestry Group ; genetics ; Cattle ; DNA Mutational Analysis ; Dogs ; Humans ; Methionine ; genetics ; Mice ; Molecular Sequence Data ; Mutation ; Phenotype ; Rats ; Sequence Alignment ; Sequence Analysis, DNA ; Threonine ; genetics