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GSD0

Your GSD0 coordinator is
Abbie Maguire

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The enzyme glycogen synthase is needed for the body to make glycogen. A deficiency results in very low amounts of glycogen stored in the liver. A person between meals can develop very low blood sugar levels, known as hypoglycemia. Early in infancy children usually have no symptoms. The hypoglycemia typically develops once night feeding stops. Before breakfast children may have drowsiness, look pale, have vomiting, fatigue and sometimes convulsions. If a GP investigates a child lacking energy, hypoglycemia is often discovered through morning urine samples.

Other names

Glycogen synthase deficiency

Affected

Liver and muscle forms

Inheritance Autosomal recessive
Incidence

Less than 1 in 1,000,000

UK diagnosed Unkown
Symptoms

Before breakfast drowsiness, tiredness, looking pale, vomiting.

Secondary symptoms

Quick to tire, muscle cramps

Treatment

Regular snacks, cornstarch to reduce overnight hypoglycemia.

Outlook

Good with adherence to recommended feeding.

 

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