Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12

@article{Valayannopoulos2009MultipleOD,
  title={Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12},
  author={Vassili Valayannopoulos and Laurence Hubert and Jean François Benoist and Salvatore Romano and Jean Baptiste Arnoux and Dominique Chr{\'e}tien and Joy Kaplan and Felipe Fakhouri and Daniel Rabier and Agn{\'e}s R{\"o}tig and Anne Sophie Lebre and Arnold Munnich and Yves de Keyzer and Pascale D E Lonlay},
  journal={Journal of Inherited Metabolic Disease},
  year={2009},
  volume={32},
  pages={159-162}
}
SummaryAn adult patient with methylmalonic aciduria due to defective cobalamin synthesis (CblA) responsive to vitamin B12 presented suddenly with severe visual impairment ascribed to optic atrophy followed by a fatal multiorgan failure and lactic acidosis but low methylmalonic acid in plasma and urine. Multiple deficiency of oxidative phosphorylation was found in the patient’s liver. We suggest that patients with B12-sensitive methylmalonic aciduria who have a milder clinical course should be… CONTINUE READING
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