Case Reports
doi: 10.1016/s0022-3476(99)70103-4.
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome
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- PMID: 10586187
- DOI: 10.1016/s0022-3476(99)70103-4
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Case Reports
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome
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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