Glycogen Storage Disease Type 1a

Glycogen Storage Disease Type 1a (GSD1a), also known as von Gierke disease, is an inherited metabolic disorder affecting how the body stores and releases glucose. The condition results from deficiency of the enzyme glucose-6-phosphatase, which is essential for releasing glucose from glycogen and from gluconeogenesis (making new glucose). This enzyme is primarily active in the liver and kidneys.

Without functional glucose-6-phosphatase, the body cannot release glucose into the bloodstream during fasting periods, leading to severe hypoglycemia (low blood sugar). Meanwhile, excess glycogen accumulates in the liver and kidneys, causing these organs to enlarge. The blocked metabolic pathways also lead to elevated levels of lactate, uric acid, cholesterol, and triglycerides.

Symptoms typically appear in infancy when babies begin longer intervals between feedings. Signs include poor growth, enlarged liver and kidneys, a doll-like face with fat cheeks, thin limbs, short stature, and protruding abdomen. Episodes of low blood sugar can cause seizures, especially during illness or fasting. Long-term complications may include liver tumors, kidney disease, and gout.

GSD1a is caused by mutations in the G6PC gene and is inherited in an autosomal recessive pattern. Treatment focuses on maintaining blood glucose levels through frequent meals and continuous overnight feeding with cornstarch, which provides a slow-release source of glucose. With proper dietary management, individuals can lead relatively normal lives.

NutraHacker examines the following gene related to Glycogen Storage Disease Type 1a:

• G6PC

For more information about your own genetic profile as related to Glycogen Storage Disease Type 1a, please check out our NutraHacker Carrier Status and Drug Response Report.

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