Cj. Hendriksz et al., Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose, ARCH DIS CH, 85(4), 2001, pp. 339-340
An Asian girl presented with failure to thrive, congenital hepatic fibrosis
, protein losing enteropathy, and hypoglycaemia. Phosphomannose isomerase a
ctivity in skin fibroblasts was reduced. She is homozygous for a mutation,
D131N, in the phosphomannose isomerase gene (PM1), consistent with the diag
nosis of carbohydrate deficient glycoprotein syndrome type 1b. She responde
d to oral mannose treatment.