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Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose
  1. C J Hendriksza,
  2. P McCleana,
  3. M J Hendersona,
  4. D G Keirb,
  5. V C Worthingtonc,
  6. F Imtiazd,
  7. E Schollene,
  8. G Matthijse,
  9. B G Winchesterd
  1. aChildren's Liver and GI Unit, Department of Paediatrics, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK, bDepartment of Neuroimmunology, Institute of Neurology (University College London) and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK, cEnzyme Laboratory, Chemical Pathology, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK, dBiochemistry, Endocrinology and Metabolism Unit, Institute of Child Health (University College London), London WC1N 1EH, UK, eCenter For Human Genetics, Catholic University of Leuven, 3000 Leuven, Belgium
  1. Dr McCleanpatricia.mcclean{at}gw.sjsuh.northy.nhs.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.

  • carbohydrate deficient glycoprotein syndrome
  • enteropathy
  • hepatic fibrosis
  • hyperinsulinism
  • hypoglycaemia
  • mannose

https://doi.org/10.1136/adc.85.4.339

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