What is Glycogen Storage Disease in Children

Another group of disorders of carbohydrate metabolism are those of glycogen storage in Children. These include glycogen storage disease (GSD) types I, II, and III and the phosphorylase system deficiencies. In all forms of GSD careful monitoring of growth and nutritional requirements is necessary and these children should be followed in a specialist centre.

Glycogen storage disease type I (GSDI)

In this form of GSD there is either a deficiency of glucose-6-phosphatase or a defect in one of its transport proteins. Clinical manifestations include growth retardation and hepatomegaly. The main goal of dietary treatment is to promote normal growth by maintaining a normal blood glucose level and this requires frequent administration of dietary glucose throughout the 24-hour period. This generally necessitates frequent carbohydrate-containing meals and snacks during the day, often including drinks of a glucose polymer or uncooked cornstarch preparations (for slower glucose release). Overnight nasogastric feeding is used to provide glucose while the child is asleep.

Glycogen storage disease type II

This form of GSD is caused by a deficiency of acid maltase, leading to an accumulation of glycogen. The infantile form (Pompe’s disease) is associated with a poor prognosis and early death. The childhood form is less severe presenting with generalized muscle weakness which may lead to cardio-respiratory insufficiency and death. Dietary treatment includes a high protein diet with decreased intakes of carbohydrate and fat to provide normal energy intake.

Glycogen storage disease type III

GSDI II involves a deficiency of the glycogen debranching enzyme and the production of glucose from glycogen is limited. Hypoglycaemia and poor growth are common in childhood but symptoms become less severe as the child gets older. Dietary management varies according to the severity of the disease but includes a high protein diet. Some children also require frequent feeding similar to that used for GSD type I and overnight feedings may be used.

Disorders of the phosphorylase system

These have similar symptoms to GSDIII, but are much milder with minimal hypoglycaemia. Adults are usually asymptomatic and there is a normal life expectancy.

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Glycogen storage disease - Wikipedia, the free encyclopedia
Overall, study British Columbia, approximately 2.3 children 100 000 births (1 43,000) form glycogen storage disease. In United

whatisglycogenstoragedisease
What Glycogen Storage Disease? ***** All Glycogen Storage Diseases considered inherited metabolic disorders.



Glycogen storage disease type II - Wikipedia, the free encyclopedia
Glycogen storage disease type II ( called Pompe disease acid maltase deficiency) treatment disease lethal infants young children.

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2 Responses to What is Glycogen Storage Disease in Children

  1. Prince

    Thanks a lot for sharing useful information about Glycogen Storage Disease in children. It is very important to have our children checked if we notice early symptoms to prevent this condition.
    Prince recently posted..Fight the Urge for SweetsMy Profile

  2. Maria

    This is the third time I’ve been to your website. Thanks for sharing more details.

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