Inborn errors in the vitamin B6 salvage enzymes associated with neonatal epileptic encephalopathy and other pathologies.

@article{Ghatge2021InbornEI,
  title={Inborn errors in the vitamin B6 salvage enzymes associated with neonatal epileptic encephalopathy and other pathologies.},
  author={Mohini S. Ghatge and Mohammed H. AL Mughram and Abdelsattar M. Omar and Martin K. Safo},
  journal={Biochimie},
  year={2021}
}
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Diet modifies allele-specific phenotypes in Drosophila carrying epilepsy-associated PNPO variants
TLDR
It is demonstrated that human PNPO variants interact with diet to contribute to phenotypic variations; and that the knock-in Drosophila model offers a powerful approach to systematically examine clinical manifestations and the underlying mechanisms of human PnPO deficiency.
Drosophila carrying epilepsy-associated variants in the vitamin B6 metabolism gene PNPO display allele- and diet-dependent phenotypes
TLDR
It is shown that phenotypes in knock-in flies are allele and diet dependent, providing clues for timely and specific diet interventions and biological insights into mechanisms underlying phenotypic variations and specific therapeutic strategies.
Neurological functions and synergism of vitamins B1, B6 and B12
Structural biochemistry coming of age in the study of genetic metabolic disorders
Vitamin B6 and Related Inborn Errors of Metabolism

References

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