Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC.

@article{Adrovic2016CobalaminCD,
  title={Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC.},
  author={Amra Adrovic and Nur Canpolat and S. Kizilbudak Caliskan and Lale Sever and Ertuğrul Kıykım and Ayşe Ağbaş and Matthias R Baumgartner},
  journal={Pediatrics international : official journal of the Japan Pediatric Society},
  year={2016},
  volume={58 8},
  pages={763-5}
}
Atypical hemolytic uremic syndrome (aHUS) is mostly linked to defects in the regulation of alternative complement pathway, but a rare form is caused by an inherited defect of cobalamin 1 metabolism. Cobalamin C (cblC) deficiency is an autosomal recessive disorder of vitamin B12 metabolism that results from mutations in methylmalonic aciduria and… CONTINUE READING