Glycogen Storage Disease Type Ia DNA Test

Are you a genetic carrier for glycogen storage disease type Ia? Find out with this DNA Test.

  • Detects one G6PC variant which causes glycogen storage disease type Ia
  • Characterized by low blood glucose levels and the accumulation of fat and glycogen
  • Carrier screening test intended for couples who are planning to become pregnant
  • 100% private and confidential online results

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Detailed Description

Glycogen storage disease type Ia (GSDIa) is a disorder characterized by low blood glucose levels and an accumulation of fat and glycogen, leading to organ and tissue damage. It is caused by variants in the G6PC gene that inhibit the function of the glucose-6-phosphatase enzyme, preventing the normal metabolism of glucose-6-phosphate.

GSDIa is a rare disorder that affects 1 in 100,000 people in the general population. However, it is more common in people of Ashkenazi Jewish descent, with a prevalence of 1 in 20,000.

Take this test to find out if you are a genetic carrier for GSDIa and are at risk of passing a G6PC variant to your children. 

The Genetics

GSDIa is caused by variants in the G6PC gene. This gene provides instructions for the glucose-6-phosphatase enzyme, which works together with glucose-6-phosphate translocase (encoded by the SLC37A4 gene) to break down glucose-6-phosphate into the simple sugar glucose (the main energy source for many cells within the body).

Affected people produce a nonfunctional glucose-6-phosphatase enzyme, impairing the metabolism of glucose-6-phosphate. Instead glucose-6-phosphate is converted to fat and glycogen, which accumulates in organs and tissues, particularly the liver and kidneys.

GSDIa is an autosomal recessive disorder, meaning that an individual must inherit two defective copies of the G6PC gene for symptoms to occur.

Variant Tested

This test detects a genetic variant in the G6PC gene that occurs in 98% of GSDIa cases and carriers who are of Ashkenazi Jewish descent. 

  • rs1801175 T (R83C)

Understanding your carrier status for this variant will help you understand the risk of passing it to your children.

Signs and Symptoms
  • Low blood sugar
  • Hepatomegaly (enlarged liver)
  • Seizures
  • Accumulation of lactic acid in the body (lactic acidosis)
  • High uric acid levels (hyperuricemia)
  • Excess fat in the blood (hyperlipidemia)
  • Doll-like faces with fat cheeks
  • Relatively thin arms and legs
  • Short stature 
  • A protruding abdomen from enlarged liver and kidneys
  • Impaired platelet function leading to bleeding

How It Works

Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.