Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose.
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.
Hendriksz
C J
CJ
Children's Liver and GI Unit, Department of Paediatrics, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK.
McClean
P
P
Henderson
M J
MJ
Keir
D G
DG
Worthington
V C
VC
Imtiaz
F
F
Schollen
E
E
Matthijs
G
G
Winchester
B G
BG
D000284:Administration, Oral; D018981:Congenital Disorders of Glycosylation / Q000188:drug therapy* / Q000201:enzymology / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D008358:Mannose / Q000008:administration & dosage*; D008359:Mannose-6-Phosphate Isomerase / Q000172:deficiency* / Q000235:genetics; D009154:Mutation; D014168:Transferrin / Q000737:chemistry
D014168:Transferrin; D008359:Mannose-6-Phosphate Isomerase; D008358:Mannose