Glycogen storage diseases

Key points

Autosomal or X-linked recessive errors of carbohydrate metabolism - multiple types

Most common is type 1a (von Gierke's disease) - mutation in glucose-6-phosphatase gene

Major glycogen stores are liver and skeletal muscle

Presentation

• Persistent hypoglycaemia (note that this may be physiological within the first 48 hours of life) and seizures

• Hepatomegaly

• Lactic acidosis

• Hyperlipidaemia

• Ketoacidosis

• Failure to thrive

• Exercise intolerance

Investigation

Serum glucose, ketones, lactate, lipids, urate

Muscle or liver biopsy may be needed

Management

IV dextrose initially

Regular/continuous feeding to maintain normoglycaemia

Page edited by Mrs Charnjit Seehra BSc November 2024

References

Stone WL, Basit H, Adil A. Glycogen Storage Disease. [Updated 2023 May 29]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing

https://patient.info/doctor/von-gierkes-glycogen-storage-disease