Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5′-phosphate availability

@article{Balasubramaniam2009PerinatalHP,
  title={Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5′-phosphate availability},
  author={Shanti Balasubramaniam and Frank Bowling and Kevin T. Carpenter and John R. Earl and Jeffrey Chaitow and James Pitt and Etienne Mornet and David Sillence and Carolyn J. Ellaway},
  journal={Journal of Inherited Metabolic Disease},
  year={2009},
  volume={33},
  pages={25-33}
}
  • Shanti Balasubramaniam, Frank Bowling, +6 authors Carolyn J. Ellaway
  • Published 2009
  • Biology, Medicine
  • Journal of Inherited Metabolic Disease
  • We describe two neonates presenting with perinatal hypophosphatasia and severe epileptic encephalopathy resulting in death. Both had increased levels of urinary vanillactate, indicating functional deficiency of aromatic amino acid decarboxylase, a pyridoxal-5-phosphate (PLP)-dependent enzyme required for dopamine and serotonin biosynthesis. Clinical findings and results of subsequent metabolic investigations were consistent with secondary pyridoxine-deficient encephalopathy. These patients… CONTINUE READING

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