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

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


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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Child, Preschool
  • Congenital Disorders of Glycosylation / diagnosis*
  • Congenital Disorders of Glycosylation / diet therapy
  • Congenital Disorders of Glycosylation / genetics
  • Congenital Disorders of Glycosylation / metabolism
  • Dietary Supplements
  • Female
  • Humans
  • Hypoglycemia / etiology*
  • Hypoglycemia / metabolism
  • Mannose / therapeutic use
  • Point Mutation
  • Sequence Analysis, DNA


  • Mannose