Glycogen storage disease type 1a in Israel: Biochemical, clinical, and mutational studies

Ruti Parvari, Ke Jian Lei, Nava Bashan, Eli Hershkovitz, Stanley H. Korman, Varda Barash, Tali Lerman-Sagie, Hannah Mandel, Janice Yang Chou, Shimon W. Moses

Research output: Contribution to journalArticlepeer-review

35 Scopus citations


Glycogen storage disease type 1a (von Gierke disease, GSD 1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity which catalyzes the final common step of glycogenolysis and gluconeogenesis. The recent cloning of the G6Pase cDNA and characterization of the human G6Pase gene enabled the characterization of the mutations causing GSD 1a. This, in turn, allows the introduction of a noninvasive DNA-based diagnosis that provides reliable carrier testing and prenatal diagnosis. In this study, we report the biochemical and clinical characteristics as well as mutational analyses of 12 Israeli GSD 1a patients of different families, who represent most GSD 1a patients in Israel. The mutations, G6Pase activity, and glycogen content of 7 of these patients were reported previously. The biochemical data and clinical findings of all patients were similar and compatible with those described in other reports. All 9 Jewish patients, as well as one Muslim Arab patient, presented the R83C mutation. Two Muslim Arab patients had the V166G mutation which was not found in other patients' populations. The V166G mutation, which was introduced into the G6Pase cDNA by site-directed mutagenesis following transient expression in COS-1 cells, was shown to cause complete inactivation of the G6Pase. The characterization of all GSD 1a mutations in the Israeli population lends itself to carrier testing in these families as well as to prenatal diagnosis, which was carried out in 2 families. Since all Ashkenazi Jewish patients harbor the same mutation, our study suggests that DNA-based diagnosis may be used as an initial diagnostic step in Ashkenazi Jews suspected of having GSD 1a, thereby avoiding liver biopsy.

Original languageEnglish
Pages (from-to)286-290
Number of pages5
JournalAmerican Journal of Medical Genetics
Issue number3
StatePublished - 31 Oct 1997


  • Ashkenazi Jews
  • Glycogen storage disease type 1a
  • Israeli mutations
  • Muslim Arabs

ASJC Scopus subject areas

  • Genetics(clinical)


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