Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome
D Babovic-Vuksanovic, MC Patterson… - The Journal of …, 1999 - Elsevier
The Journal of pediatrics, 1999•Elsevier
We describe clinical, biochemical, and molecular findings in a 2 ½-year-old girl with a
phosphomannose isomerase deficiency who presented with severe and persistent
hypoglycemia and subsequently developed protein-losing enteropathy, liver disease, and
coagulopathy. Six months of therapy with mannose supplementation resulted in clinical
improvement and partial correction of biochemical abnormalities.(J Pediatr 1999; 135: 775-
81)
phosphomannose isomerase deficiency who presented with severe and persistent
hypoglycemia and subsequently developed protein-losing enteropathy, liver disease, and
coagulopathy. Six months of therapy with mannose supplementation resulted in clinical
improvement and partial correction of biochemical abnormalities.(J Pediatr 1999; 135: 775-
81)
We describe clinical, biochemical, and molecular findings in a 2 ½-year-old girl with a phosphomannose isomerase deficiency who presented with severe and persistent hypoglycemia and subsequently developed protein-losing enteropathy, liver disease, and coagulopathy. Six months of therapy with mannose supplementation resulted in clinical improvement and partial correction of biochemical abnormalities. (J Pediatr 1999;135:775-81)
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