The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.

@article{ThauvinRobinet2008TheAA,
  title={The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.},
  author={Christel Thauvin-Robinet and Emmanuel Roze and Gr{\'e}gory Couvreur and M. H. Horellou and Fr{\'e}d{\'e}ric Sedel and David Grabli and Ga{\"e}lle Bruneteau and C Tonneti and Alice Masurel-Paulet and Dominic Alain P{\'e}rennou and Thibault Moreau and Maurice Giroud and H{\'e}l{\`e}ne Ogier de Baulny and St{\'e}phane Giraudier and Laurence Faivre},
  journal={Journal of neurology, neurosurgery, and psychiatry},
  year={2008},
  volume={79 6},
  pages={725-8}
}
BACKGROUND Cobalamin C disease is the most common inborn error of cobalamin metabolism with an autosomal recessive mode of inheritance and mutations within the MMACHC gene. Clinical features, including systemic, haematological and neurological abnormalities, usually occur in the first year of life. Adolescent and adult onset presentations are rare. METHODS We report on the clinical, molecular and imaging features in three patients aged 40, 42 and 42 years at the last follow-up. We examine… CONTINUE READING