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Glycogen Storage Disease Type Ia (glycogen + storage_disease_type_ia)
Selected AbstractsMutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type IaCLINICAL GENETICS, Issue 6 2004C-S Ki Glycogen storage disease type Ia (GSD Ia; MIM 232200) is an autosomal recessive inherited metabolic disorder resulting from a deficiency of the microsomal glucose-6-phosphatase (G6Pase), the enzyme that catalyzes the terminal step in gluconeogenesis and glycogenolysis. Various mutations in the G6Pase gene (G6PC) have been found in patients with GSD Ia. To elucidate the spectrum of the G6PC gene mutations, 13 unrelated Korean patients with GSD Ia were analyzed. We were able to identify mutant alleles in all patients, including three known mutations (727G > T, G122D, and T255I) and two novel mutations (P178A and Y128X). The frequency of the 727G > T mutation in Korean patients with GSD Ia was 81% (21/26), which was slightly lower than that (86,92%) in Japanese but much higher than that (44.4%) in Taiwan Chinese. Except one, all patients were either homozygous (9/13) or compound heterozygous (3/13) for the 727G > T mutation; the only patient without the 727G > T mutation was a compound heterozygote for the G122D and Y128X mutations. Our findings suggest that a DNA-based test can be used as the initial diagnostic approach in Korean patients clinically suspected to have GSD Ia, thereby avoiding invasive liver biopsy. [source] Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip,HUMAN MUTATION, Issue 2 2003Yoichi Matsubara Abstract Recent advances in human genome research have revealed that genetic polymorphisms, such as single nucleotide polymorphisms (SNPs), are closely associated with susceptibility to various common diseases and adverse drug reactions. Also, numerous mutations responsible for a number of genetic diseases have been identified. Clinical application of genetic information to individual health care requires simple and rapid identification of nucleotide changes in clinical settings. We have devised a novel low-tech method for the detection of a single nucleotide substitution using competitive allele-specific short oligonucleotide hybridization with immunochromatographic strip. The gene of interest is PCR-amplified, hybridized to an allele-specific short oligonucleotide probe in the presence of a competitive oligonucleotide, and subjected to chromatography using a DNA test strip at room temperature. The genotype is unambiguously determined by the presence or the absence of visible purple lines on a strip. Feasibility of the method was demonstrated by the detection of a prevalent disease-causing mutations in glycogen storage disease type Ia (G6PC), medium-chain acyl-CoA dehydrogenase deficiency (ACADM), non-ketotic hyperglycinemia (GLDC), and clinically important polymorphisms in the CYP2C19 gene and the aldehyde dehydrogenase 2 gene (ALDH2). The procedure does not demand either technical expertise or expensive instruments and is readily performed in local clinical laboratories. The result is obtained within 10 min after PCR. This rapid and simple method of SNP detection may be used for point-of-care genetic diagnosis with potentially diverse clinical applications. Hum Mutat 22:166,172, 2003. © 2003 Wiley-Liss, Inc. [source] Prenatal diagnosis of glycogen storage disease type Ia, presenting a new mutation in the glucose-6-phosphatase genePRENATAL DIAGNOSIS, Issue 7 2007Dong-Zhi Li No abstract is available for this article. [source] G6PC mutations in two patients with glycogen storage disease type Ia in ThailandACTA PAEDIATRICA, Issue 2 2010Mahattana Kamolsilp No abstract is available for this article. [source] Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type IaCLINICAL GENETICS, Issue 6 2004C-S Ki Glycogen storage disease type Ia (GSD Ia; MIM 232200) is an autosomal recessive inherited metabolic disorder resulting from a deficiency of the microsomal glucose-6-phosphatase (G6Pase), the enzyme that catalyzes the terminal step in gluconeogenesis and glycogenolysis. Various mutations in the G6Pase gene (G6PC) have been found in patients with GSD Ia. To elucidate the spectrum of the G6PC gene mutations, 13 unrelated Korean patients with GSD Ia were analyzed. We were able to identify mutant alleles in all patients, including three known mutations (727G > T, G122D, and T255I) and two novel mutations (P178A and Y128X). The frequency of the 727G > T mutation in Korean patients with GSD Ia was 81% (21/26), which was slightly lower than that (86,92%) in Japanese but much higher than that (44.4%) in Taiwan Chinese. Except one, all patients were either homozygous (9/13) or compound heterozygous (3/13) for the 727G > T mutation; the only patient without the 727G > T mutation was a compound heterozygote for the G122D and Y128X mutations. Our findings suggest that a DNA-based test can be used as the initial diagnostic approach in Korean patients clinically suspected to have GSD Ia, thereby avoiding invasive liver biopsy. [source] | ||||||||||