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Case Reports
. 1999 Dec;135(6):775-81.
doi: 10.1016/s0022-3476(99)70103-4.

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

D Babovic-Vuksanovic  1 , M C Patterson, W F Schwenk, J F O'Brien, J Vockley, H H Freeze, D P Mehta, V V Michels
Affiliations
Case Reports

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

D Babovic-Vuksanovic et al. J Pediatr. 1999 Dec.

Abstract

We describe clinical, biochemical, and molecular findings in a 2(1/2)-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.

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