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


Hoffmann, G F; Schmitt, B; Windfuhr, M; Wagner, N; Strehl, H; Bagci, S; Franz, A R; Mills, P B; Clayton, P T; Baumgartner, M R; Steinmann, B; Bast, T; Wolf, N I; Zschocke, J (2007). Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy. Journal of Inherited Metabolic Disease, 30(1):96-99.

Abstract

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.

Abstract

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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Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Language:English
Date:2007
Deposited On:04 Feb 2020 14:22
Last Modified:31 Jul 2020 03:45
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0141-8955
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/s10545-006-0508-4
PubMed ID:17216302

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