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Von Gierke Disease (GSD1)

Your GSD1 coordinator is
Jason McMillan

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Children with GSD1 are unable to release glucose from liver glycogen. If untreated this results in prolonged periods when their blood sugar level is too low. They become unwell in early childhood with sweating, irritability, poor growth and muscle weakness. Their livers become enlarged because of excessive accumulation of glycogen that cannot be broken down normally. In addition to these problems, children with GSD1 can develop frequent mouth ulcers and are at increased risk of infection.

 

Other names

1a: Glucose-6-phosphatase deficiency,
1b: Glucose-6-phosphatase translocase deficiency

Affected Liver
Inheritance Autosomal recessive
Incidence Approx. 1 in 20,000
UK diagnosed About 1,000
Symptoms

Sweating, irritability and poor growth during childhood.

Secondary symptoms

Mouth ulcers, increased risk of infection and muscle weakness.

Treatment

Initially glucose via a nasogastric tube. As children get older, glucose is replaced with cornstarch taken orally.

Outlook

Most children do well, symptoms improve as they reach adulthood.

 

How can we help?

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Diagnosis & Management

Introduction, Symptoms & Treatment, Parents’ guide, Management

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Information & Support

Coordinator, Links

 

Activity & Exercise

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Research & Development

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