title: Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.
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.
authors.affiliation: Department of Medical Genetics, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA.
authors.forename: D
authors.initials: D
authors.lastname: Babovic-Vuksanovic
authors.forename: M C
authors.initials: MC
authors.lastname: Patterson
authors.forename: W F
authors.initials: WF
authors.lastname: Schwenk
authors.forename: J F
authors.initials: JF
authors.lastname: O'Brien
authors.forename: J
authors.initials: J
authors.lastname: Vockley
authors.forename: H H
authors.initials: HH
authors.lastname: Freeze
authors.forename: D P
authors.initials: DP
authors.lastname: Mehta
authors.forename: V V
authors.initials: VV
authors.lastname: Michels
mesh_terms: D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics / Q000378:metabolism; D019587:Dietary Supplements; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology* / Q000378:metabolism; D008358:Mannose / Q000627:therapeutic use; D017354:Point Mutation; D017422:Sequence Analysis, DNA
chemical_list: D008358:Mannose