B6-responsive disorders: A model of vitamin dependency

  title={B6-responsive disorders: A model of vitamin dependency},
  author={Peter Theodore Clayton},
  journal={Journal of Inherited Metabolic Disease},
Pyridoxal phosphate is the cofactor for over 100 enzyme-catalysed reactions in the body, including many involved in the synthesis or catabolism of neurotransmitters. Inadequate levels of pyridoxal phosphate in the brain cause neurological dysfunction, particularly epilepsy. There are several different mechanisms that lead to an increased requirement for pyridoxine and/or pyridoxal phosphate. These include: (i) inborn errors affecting the pathways of B6 vitamer metabolism; (ii) inborn errors… CONTINUE READING
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Pyridoxine dependent/responsive seizures

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Epidemiology of pyridoxine-dependent seizures in The Netherlands

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