Background

Glycogen Storage Disease (GSD) Type 1b is a rare autosomal recessive condition The genetic defect leads to an absence of the enzyme Glucose-6-Phosphatase, which is involved in both Glycogenolysis and Gluconeogenesis. Consequently, there is a tendency towards life threatening Hypoglycaemia with a consequent requirement for frequent oral intake. Associated features include Lactic Acidosis, Hyperuricaemia and, Chronic Neutropenia resulting in oral ulceration and, periodontal disease. This may lead to problems with oral feeding and, potentiate life threatening Hypoglycaemia.

Objectives

This case report describes an episode of Hypoglycaemia in a 23 year old GSD 1b patient following a recent course of antibiotics to control her oral ulceration. This required in-patient management with intravenous dextrose and, frequent ingestion of corn starch.

It serves to illustrate the bio-psycho-social issues of a young patient with a continual life threatening illness and, the effect her oral manifestations can have in precipitating an acute episode.

Methods

A Case report of a 23 year old patient with GSD 1b under long term joint care of Endocrinology and Maxillofacial Surgery in Hawkes Bay District Health Board who presented in February of 2014. The report describes the background of the Metabolic illness and its Oral Manifestations. 

Discussion

GSD 1b sufferers have a long term continued threat of Hypoglycaemia. Neutropenia secondary to the Metabolic defect can precipitate severe Sepsis leading to Mortality. Further to this, Neutropenia can cause oral ulceration further compounding issues of feeding. Antibiotic mouthrinses and, systemic  antibiotic therapy can be helpful but may further affect gastrointestinal motility with the possibility of impaired Glucose absorption. Sufferers therefore require close monitoring to manage their Oral Health.