Apr 6, 2025 · First described by Dr. Edgar Von Gierke in 1929, GSD I results from mutations affecting glucose-6-phosphatase (G6Pase) activity, leading to excessive glycogen …

Von Gierke disease occurs when the body lacks the protein (enzyme) that releases glucose from glycogen. This causes abnormal amounts of glycogen to build up in certain tissues.

GSD I is divided into two main types, GSD Ia and GSD Ib, which differ in cause, presentation, and treatment.

Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. Explore …

Oct 31, 2025 · The von Gierke Disease page discusses the genetics and clinical features of the disorder resulting from mutations in the G6PC gene.

Dec 23, 2019 · Disease Overview Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy and to maintain steady …

Sep 4, 2024 · Glucose-6-phosphatase deficiency (G6PD; OMIM #232200), also known as von Gierke disease, is a glycogen storage disease (GSD). It was the first GSD to have the …

GSD type I (von Gierke disease), the most common type, occurs in approximately 1 in 100,000 births. What are the symptoms of glycogen storage disease? The symptoms of glycogen …

Experts know of at least 9 types of GSD. They are grouped by the enzyme that is missing in each one. Each GSD has its own symptoms and needs different treatment. The most common …

Glycogen Storage Disease Type I, also known as Von Gierke disease, is a rare genetic disorder that affects the body's ability to break down glycogen, leading to a buildup of glycogen in the …