Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose

C J Hendriksz; P McClean; M J Henderson; D G Keir; V C Worthington; F Imtiaz; E Schollen; G Matthijs; B G Winchester

doi:10.1136/adc.85.4.339

Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose

Arch Dis Child. 2001 Oct;85(4):339-40. doi: 10.1136/adc.85.4.339.

Authors

C J Hendriksz¹, P McClean, M J Henderson, D G Keir, V C Worthington, F Imtiaz, E Schollen, G Matthijs, B G Winchester

Affiliation

¹ Children's Liver and GI Unit, Department of Paediatrics, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK.

Abstract

An Asian girl presented with failure to thrive, congenital hepatic fibrosis, protein losing enteropathy, and hypoglycaemia. Phosphomannose isomerase activity in skin fibroblasts was reduced. She is homozygous for a mutation, D131N, in the phosphomannose isomerase gene (PM1), consistent with the diagnosis of carbohydrate deficient glycoprotein syndrome type 1b. She responded to oral mannose treatment.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Administration, Oral
Congenital Disorders of Glycosylation / drug therapy*
Congenital Disorders of Glycosylation / enzymology
Congenital Disorders of Glycosylation / genetics
Electrophoresis, Agar Gel
Female
Homozygote
Humans
Infant
Mannose / administration & dosage*
Mannose-6-Phosphate Isomerase / deficiency*
Mannose-6-Phosphate Isomerase / genetics
Mutation
Transferrin / chemistry

Substances

Transferrin
Mannose-6-Phosphate Isomerase
Mannose