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J Pediatr. 1999 Dec;135(6):775-81.

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

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1
Department of Medical Genetics, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA.

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.

PMID:
10586187
[Indexed for MEDLINE]
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