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

Dusica Babovic-Vuksanovic, Marc C. Patterson, W. Frederick Schwenk, John F. O'Brien, Jerry Vockley, Hudson H. Freeze, Darsbini P. Mehta, Virginia V. Michels

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77 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)775-781
Number of pages7
JournalJournal of Pediatrics
Volume135
Issue number6
DOIs
StatePublished - Jan 1 1999

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Babovic-Vuksanovic, D., Patterson, M. C., Schwenk, W. F., O'Brien, J. F., Vockley, J., Freeze, H. H., Mehta, D. P., & Michels, V. V. (1999). Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. Journal of Pediatrics, 135(6), 775-781. https://doi.org/10.1016/S0022-3476(99)70103-4