Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms

D Penel-Capelle; D Dobbelaere; J Jaeken; A Klein; M Cartigny; J Weill

doi:10.1023/a:1024044017385

Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms

J Inherit Metab Dis. 2003;26(1):83-5. doi: 10.1023/a:1024044017385.

Authors

D Penel-Capelle¹, D Dobbelaere, J Jaeken, A Klein, M Cartigny, J Weill

Affiliation

¹ Unit of Metabolic Diseases, Department of Pediatrics, Lille University Children's Hospital, Lille, France.

PMID: 12872847
DOI: 10.1023/a:1024044017385

Abstract

We report a 7-year-old girl with hyperinsulinaemic hypoglycaemia and hepatomegaly due to congenital disorder of glycosylation (CDG) Ib without gastrointestinal symptoms. Oral mannose therapy produced clinical and biochemical normalization after 2 years of treatment.

Publication types

Case Reports

MeSH terms

Congenital Disorders of Glycosylation / complications*
Congenital Disorders of Glycosylation / drug therapy
Congenital Disorders of Glycosylation / genetics*
DNA Mutational Analysis
Female
Gastrointestinal Diseases / etiology*
Gastrointestinal Diseases / prevention & control
Glycosylation*
Hepatomegaly / drug therapy
Hepatomegaly / etiology
Humans
Hyperinsulinism / blood
Hyperinsulinism / etiology
Hypoglycemia / blood
Hypoglycemia / etiology
Infant
Mannose / therapeutic use
Mutation / genetics

Substances

Mannose