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}
}
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.

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TLDR
The clinical features and biochemistry of three inborn errors of metabolism affecting brain pyridoxal 5-phosphate concentrations are described, each of which cause early-onset epilepsy of variable severity.
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