Epilepsy and inborn errors of metabolism in children

REVIEW

DOI: 10.1007/s10545-009-1171-3

Cite this article as:
Wolf, N.I., García-Cazorla, A. & Hoffmann, G.F. J Inherit Metab Dis (2009) 32: 609. doi:10.1007/s10545-009-1171-3

Summary

Epilepsy is a frequent symptom in inborn errors of metabolism, with virtually no specific seizure types or EEG signatures. It is most important to look quickly for those few inborn errors of metabolism in which specific therapies such as supplementation of cofactors or diets can make all the difference. If these investigations remain negative, epilepsy has to be treated with conventional antiepileptic drugs. Still, epilepsy is a potentially treatable symptom of many inborn errors of metabolism, and optimal treatment is of great importance for patients and their families.

Abbreviations

alpha-AASA

alpha-aminoadipic semialdehyde

CDG

congenital disorders of glycosylation

GAMT

guanidinoacetate methyltransferase

GCS

glycine cleavage system

GLUT1

glucose transporter type 1

EME

early myoclonic encephalopathy

IEM

inborn error of metabolism

MERRF

myoclonic epilepsy with ragged red fibres

NCL

neuronal ceroid lipofuscinosis

POLG1

polymerase γ1

RHADS

rhythmic high-amplitude delta with superimposed (poly)spikes

Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • N. I. Wolf
    • 1
  • A. García-Cazorla
    • 2
  • G. F. Hoffmann
    • 3
  1. 1.Department of Child NeurologyVU University Medical Center (VUMC)AmsterdamThe Netherlands
  2. 2.Department of Neurology, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER)Instituto de Salud Carlos IIIBarcelonaSpain
  3. 3.University Children’s Hospital HeidelbergHeidelbergGermany

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