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J Inherit Metab Dis. 2007 Feb;30(1):96-9. Epub 2006 Dec 23.

Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.

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Department of General Pediatrics, Ruprecht-Karls-University Heidelberg, Heidelberg, Germany.


Neonatal epileptic encephalopathy can be caused by inborn errors of metabolism. These conditions are often unresponsive to treatment with conventional antiepileptic drugs. Six children with pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency presented with neonatal epileptic encephalopathy. Two were treated with pyridoxal 5'-phosphate (PLP) within the first month of life and showed normal development or moderate psychomotor retardation thereafter. Four children with late or no treatment died or showed severe mental handicap. All of the children showed atypical biochemical findings. Prompt treatment with PLP in all neonates and infants with epileptic encephalopathy should become mandatory, permitting normal development in at least some of those affected with PNPO deficiency.

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