Glycogen storage disease type 1B - acute decompensation

Source:
British Inherited Metabolic Disease Group
Publisher:
British Inherited Metabolic Disease Group (BIMDG)
Publication date:
01 January 2008

Abstract

Patients with glycogen storage disease type 1 often become hypoglycaemic if they fast for longer than about 2 hours: sometimes it is after a much shorter time. During illness, patients have an even greater tendency to become hypoglycaemic. The treatment aims to maintain normoglycaemia all the time either with frequent oral drinks, a continuous infusion via nasogastric tube or gastrostomy or an intravenous infusion of glucose. This management should be started as soon as patients become unwell.  Patients with GSD 1b also have neutropenia and neutrophil dysfunction, leading to an increased risk of infections, inflammatory bowel disease  and mouth ulcers. The infections can be very serious. Many patients are treated  with injections of granulocyte colony stimulating factor (GCSF). 

Sections of this guideline include: background, admission, initial and ongoing management, oral and intravenous feeding, progress monitoring and discharge.