Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.

@article{Kim2012LateOO,
  title={Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.},
  author={Jaeseung C Kim and N F Lee and Paul Wuh-Liang Hwu and Yin-Hsiu Chien and Somayyeh Fahiminiya and Jacek Majewski and David Watkins and David S. Rosenblatt},
  journal={Molecular genetics and metabolism},
  year={2012},
  volume={107 4},
  pages={664-8}
}
Inborn errors of vitamin B(12) (cobalamin) metabolism are characterized by decreased production of active cobalamin cofactors and subsequent deficiencies in the activities of methionine synthase and methylmalonyl-CoA mutase. With the recent discovery of the cblJ defect in two patients with phenotypes mimicking the cblF defect, there are nine genes known to be involved in cobalamin metabolism. The new defect is caused by mutations in the ABCD4 gene, encoding an ABC transporter. At the moment… CONTINUE READING

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