Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome

We describe clinical, biochemical, and molecular findings in a 21/2 year-ol d girl with a phosphomannose isomerase deficiency who presented with severe and persistent hypoglycemia and subsequently developed protein-losing ente ropathy liver disease, and coagulopathy. Six months of therapy with mannose supplementation resulted in clinical improvement and partial correction of biochemical abnormalities.