[Molecular pathology of hepatic glycogen storage disease]. 1993

K Inui
Department of Pediatrics, Osaka University Medical School.

Recent advances of molecular analyses of hepatic glycogen storage diseases have made some progress in understanding of glycogen metabolism. Glucose-6-phosphatase has been shown to comprise at least five different polypeptides, the catalytic subunit, a regulatory Ca2+ binding protein, three transport proteins (glucose-6-phosphate, phosphate/pyrophosphate, glucose). A defect of these protein could cause type I glycogenosis. Only cDNAs of the regulatory Ca2+ binding protein and glucose transport protein were cloned. In type III glycogenosis, using monospecific antibody, correlation of biochemical defects with myopathy and cardiomyopathy was investigated. In type VI glycogenosis, the cDNA of liver phosphorylase was cloned, which will be useful for delineating the molecular defect involved in the disease and family analysis. In type VIII glycogenosis, phosphorylase kinase deficiency, only subunits of muscle type (alpha, beta, gamma, delta) were cloned and clonings of hepatic type subunits were waited. In the near feature, hepatic glycogen storage disease and glycogen metabolism were reevaluated from the points of molecular defects.

UI MeSH Term Description Entries
D008099 Liver A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances. Livers
D003001 Cloning, Molecular The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells. Molecular Cloning
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D005952 Glucose-6-Phosphatase An enzyme that catalyzes the conversion of D-glucose 6-phosphate and water to D-glucose and orthophosphate. EC 3.1.3.9. Glucosephosphatase,Glucose 6-Phosphatase,Glucose-6-Phosphate Phosphohydrolase,Glucose 6 Phosphatase
D006003 Glycogen
D006008 Glycogen Storage Disease A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement. Glycogenosis,Disease, Glycogen Storage,Diseases, Glycogen Storage,Glycogen Storage Diseases,Glycogenoses,Storage Disease, Glycogen,Storage Diseases, Glycogen
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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