CAUSES
GSD is hereditary
When both parents are carriers, with each pregnancy there is a:
- 25% (1 out of 4) chance that the child will inherit 2 normal genes, and will be neither a carrier or affected by the disorder
- 50% (2 out of 4) chance that the child will inherit one normal and 1 mutated gene, and will be a carrier of the disorder (but not be affected by the disorder)
- 25% (1 out of 4) chance that the child will inherit 2 mutated genes, one from each parent, and will be affected by the disorder
GSD1 occurs in approximately 1 in 100,000 births. There are over 10 different known types of GSD with Type 1 being the most common. The condition affects males and females equally in any population group. The prevalence of GSD1 in Ashkinazi Jews is approximately 1 in 20,000 births.
In 2015, the Children's Fund for GSD Research was instrumental in getting GSD1 added to the prenatal screening panel for genetic diseases.
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" ... because every child deserves to be healthy."