The gene for glycogen-storage disease type 1b maps to chromosome 11q23

Am J Hum Genet. 1998 Feb;62(2):400-5. doi: 10.1086/301727.


Glycogen-storage disease type 1 (GSD-1), also known as "von Gierke disease," is caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four distinct subgroups of this autosomal recessive disorder: 1a, 1b, 1c, and 1d. All share the same clinical manifestations, which are caused by abnormalities in the metabolism of glucose-6-phosphate (G6P). However, only GSD-1b patients suffer infectious complications, which are due to both the heritable neutropenia and the functional deficiencies of neutrophils and monocytes. Whereas G6Pase deficiency in GSD-1a patients arises from mutations in the G6Pase gene, this gene is normal in GSD-1b patients, indicating a separate locus for the disorder in the 1b subgroup. We now report the linkage of the GSD-1b locus to genetic markers spanning a 3-cM region on chromosome 11q23. Eventual molecular characterization of this disease will provide new insights into the genetic bases of G6P metabolism and neutrophil-monocyte dysfunction.

MeSH terms

  • Chromosome Deletion
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11*
  • Consanguinity
  • Ethnicity
  • Family
  • Female
  • Genes, Recessive
  • Genetic Markers
  • Glucose-6-Phosphatase / genetics*
  • Glycogen Storage Disease Type I / enzymology
  • Glycogen Storage Disease Type I / genetics*
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Microsomes / enzymology
  • Pedigree
  • Polymorphism, Genetic


  • Genetic Markers
  • Glucose-6-Phosphatase