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Glycogen Storage Disease Type I

Also known as Von Gierke disease or glucose-6-phosphatase deficiency.

Children with GSD I 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 GSD I can develop frequent mouth ulcers and are at increased risk of infection.

Treatment primarily consists of giving glucose drinks frequently during the day and, in most cases, continuously overnight through a tube passed down the nose into the stomach (a nasogastric tube). As children get older, treatment with cornstarch, which releases glucose slowly into the gut, may be very effective.

With such intensive treatment most children do well and their symptoms improve as they reach adulthood.

Type I summary
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

  AGSD-UK information


  External links