Article
Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability.
Journal of inherited metabolic disease - 1 Dec 2010
Balasubramaniam Shanti, Bowling Frank, Carpenter Kevin, Earl John, Chaitow Jeffrey, Pitt James, Mornet Etienne, Sillence David, Ellaway Carolyn
Abstract excerpt
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 requ...
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