Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.

@article{Darn2016MutationsIP,
  title={Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.},
  author={Niklas Dar{\'i}n and E. Shelley Reid and Laurence Prunetti and Lena Samuelsson and Ralf A. Husain and Matthew W. Wilson and Basma El Yacoubi and Emma J. Footitt and W K Kling Chong and Louise E. Wilson and Helen Prunty and Simon Pope and Simon J. R. Heales and Karine Lascelles and Mike P. Champion and Evangeline Wassmer and Pierangelo Veggiotti and Val{\'e}rie de Cr{\'e}cy-Lagard and Philippa B. Mills and Peter Theodore Clayton},
  journal={American journal of human genetics},
  year={2016},
  volume={99 6},
  pages={
          1325-1337
        }
}
Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation. A deficiency of PLP can present, therefore, as seizures and other symptoms that are treatable with PLP and/or pyridoxine. Deficiency of PLP in the brain can be caused by inborn errors affecting B6 vitamer metabolism or by inactivation of PLP, which can occur when compounds accumulate as a result of… CONTINUE READING
Related Discussions
This paper has been referenced on Twitter 7 times. VIEW TWEETS

Citations

Publications citing this paper.
Showing 1-4 of 4 extracted citations

Vitamin B6 is essential for serine de novo biosynthesis

Journal of Inherited Metabolic Disease • 2017
View 4 Excerpts
Highly Influenced

References

Publications referenced by this paper.
Showing 1-3 of 3 references

plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LCMS/MS method

MD Paraskevopoulou, G Georgakilas, +6 authors AG. Hatzigeorgiou
J Inherit Metab Dis • 2013
View 2 Excerpts