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

Research output: Contribution to journalArticlepeer-review

80 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 - 1999

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome'. Together they form a unique fingerprint.

Cite this