Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption.

@article{Helander2014AsymptomaticPI,
  title={Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption.},
  author={Anders Helander and Jaak Jaeken and Gert Matthijs and G{\"o}sta Eggertsen},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={2014},
  volume={431},
  pages={15-8}
}
CASE REPORT In a routine company health check-up, a 32-year-old woman presented a highly elevated serum level of carbohydrate-deficient transferrin (CDT), a biomarker for excessive alcohol consumption. The test result (~17% disialotransferrin, reference interval <2.0%; ~3% asialotransferrin, reference 0%) was confirmed by analysis of a second sample, while another alcohol biomarker, phosphatidylethanol (PEth) in whole-blood, was negative. This suggested that her elevated CDT may be unrelated to… CONTINUE READING
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