Causes

CAUSES

GSD is hereditary

WHAT CAUSES GSD?

GSD is a recessive genetic disorder.  Recessive genetic disorders occur when an individual happens to inherit two copies of the same abnormal gene for the same trait/disease from each parent. The diagnosis of GSD1 is established in a patient by identification of two pathogenic variants in either G6PC (GSD1a) or SLC37A4 (GSD1b).

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.

  • Causes

    Glycogen Storage Disease is an inherited recessive genetic disorder.

  • Signs & Symptoms

    The primary symptom of GSD1 in infancy is a low blood sugar level.

  • Daily Management

    Diet is the cornerstone of treatment.

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" ... because every child deserves to be healthy."

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