GLYCOGEN STORAGE DISEASE TYPE I

Course overview

GLYCOGEN STORAGE DISEASE TYPE I (GSD I), ALSO KNOWN AS VON GIERKE DISEASE, IS AN INHERITED DISORDER CAUSED BY DEFICIENCIES OF SPECIFIC ENZYMES IN THE GLYCOGEN METABOLISM PATHWAY. IT WAS FIRST DESCRIBED BY VON GIERKE IN 1929 WHO REPORTED EXCESSIVE HEPATIC AND RENAL GLYCOGEN IN THE AUTOPSY REPORTS OF 2 CHILDREN. IT COMPRISES 2 MAJOR SUBTYPES, GSD IA AND GSD IB. IN GSD IA, THERE IS A DEFICIENCY OF ENZYME GLUCOSE-6-PHOSPHATASE (G6PASE) WHICH CLEAVES GLYCOGEN TO GLUCOSE THUS LEADING TO HYPOGLYCEMIA AND LACTIC ACIDOSIS. THIS ACTIVITY REVIEWS THE EVALUATION AND TREATMENT OF ABDOMINAL AORTIC ANEURYSMS AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN EVALUATING AND TREATING THIS CONDITION.