The understanding of type 1 glycogen storage diseases (GSDs) has been greatly hindered by a lack of knowledge of the molecular basis of glucose-6-phosphatase (Glc-6-P'ase).
Polymerase chain reaction (PCR) and nucleotide sequence analysis were used to identify the location and nature of mutations at the G6Pase locus in two siblings affected with type 1a GSD.
DNA analysis indicated that the fetus was a heterozygous carrier of type Ia GSD with a mutant G6Pase allele at exon 2 and a normal G6Pase allele at exon 5.
Demonstration by molecular biology techniques of a mutation in both alleles of the G6Pase gene establishes the diagnosis of GSD Type Ia, obviating the need for a liver biopsy.
Glycogen storage disease (GSD) type 1b (Online Mendelian Inheritance in Man [OMIM] 232220) is an autosomal recessive inborn error of carbohydrate metabolism caused by defects in glucose-6-phosphate translocase.
We consistently replicated the association of ABCG8 gene with GSD (rs11887534, P = 3.24 × 10<sup>-8</sup>, OR = 1.74) and identified TRAF3 (rs12882491, P = 1.11 × 10<sup>-7</sup>, OR = 1.40) as a novel candidate gene for the disease in admixed Chilean Latinos.
To investigate whether apolipoprotein E polymorphism modulates the susceptibility to GSD at the population level and to study the possible associations between impaired glucose tolerance, diabetes, and GSD.
The aim of this study was to analyze the relationship between D19H and T400K polymorphisms in the ABCG8 gene and GSD in an Indian population, and the effects of these polymorphisms on cholesterol levels in sera and bile.
Various studies have shown a relationship between APOB gene polymorphisms and lipoprotein levels, but only few investigated a potential association between APOB polymorphism and GSD, giving contrary results.
Since GSD may function as GBC precursor, the present study aimed to investigate the association of common functional genetic variants of ADRA2AC-1291G, ADRβ3 T190C or Trp64Arg, and ADRβ1 C1165G or Arg389Gly with GBC and GSD susceptibility.