Metabolic Brain Disease

, Volume 25, Issue 2, pp 207–209 | Cite as

Generalized seizures aggravated by levetiracetam in an adult patient with phenylketonuria

  • Nese Dericioglu
  • Serap Saygi
Original Paper


Phenylketonuria (PKU) is one of the most common inherited metabolic disorders, which is characterized by excessive accumulation of phenylalanine (Phe) in tissues. Generalized seizures occur in 25% of the patients. Little is known about seizures and their treatment in adult PKU patients, and information with newer antiepileptic drugs is lacking. Here we report an adult patient who developed generalized seizures later in life, despite strict dietary control, and whose seizures were aggravated by levetiracetam (LEV). Convulsions ceased after discontinuation of LEV and the patient has been seizure free on topiramate 125 mg/day.


Phenylketonuria Epilepsy Seizure aggrevation Levetiracetam Topiramate 


  1. Brenton DP, Pietz J (2000) Adult care in phenylketonuria and hyperphenylalaninemia: the relevance of neurological abnormalities. Eur J Pediatr 159(Suppl 2):S114–S120CrossRefPubMedGoogle Scholar
  2. Gross PT, Berlow S, Schuett VET, Fariello RG (1981) EEG in phenylketonuria. Attempt to establish clinical importance of EEG changes. Arch Neurol 38(2):122–126PubMedGoogle Scholar
  3. Hanley B (2004) Adult Phenylketonuria. Am J Med 117:590–595CrossRefPubMedGoogle Scholar
  4. Lin CM, Thajeb P (2007) Valproic acid aggravates epilepsy due to MELAS in a patient with an A3243G mutation of mitochondrial DNA. Metab Brain Dis 22(1):105–109CrossRefPubMedGoogle Scholar
  5. Lynch BA, Lambeng N, Nocka K, Kensel-Hammes P, Bajjalieh SM, Matagne A, Fuks B (2004) The synaptic vesicle protein SV2A is the binding site for the antiepileptic drug levetiracetam. Proc Natl Acad Sci USA 101(26):9861–9866CrossRefPubMedGoogle Scholar
  6. Martynyuk AE, Ucar DA, Yang DD, Norman WM, Carney PR, Dennis DM, Laipis PJ (2007) Epilepsy in phenylketonuria: a complex dependence on serum phenylalanine levels. Epilepsia 48(6):1143–1150CrossRefPubMedGoogle Scholar
  7. Szücs A, Clemens Z, Jakus R, Rasonyi G, Fabo D, Hollo A, Barcs G, Kelemen A, Janszky J (2008) The risk of paradoxical levetiracetam effect is increased in mentally retarded patients. Epilepsia 49(7):1174–1179CrossRefPubMedGoogle Scholar
  8. Thompson AJ, Tillotson S, Smith I, Kendall B, More SG, Brenton DP (1993) Brain MRI changes in phenylketonuria. Association with dietary status. Brain 116:811–821CrossRefPubMedGoogle Scholar
  9. Villasana D, Butler IJ, Williams JC, Roongata SM (1989) Neurological deterioration in adult phenylketonuria. J Inherit Metab Dis 12:451–457CrossRefPubMedGoogle Scholar
  10. Walter JH, White F, Wraith JE, Jenkins JP, Wilson BP (1997) Complete reversal of moderate/severe brain MRI abnormalities in a patient with classical phenylketonuria. J Inherit Metab Dis 20:367–369CrossRefPubMedGoogle Scholar
  11. Williams RA, Mamotte CDS, Burnett JR (2008) Phenylketonuria: an inborn error of phenylalanine metabolism. Clin Biochem Rev 29:31–41PubMedGoogle Scholar
  12. Zhang SX, Yu WM, Wang GZ (1995) An electroencephalogram analysis of 94 phenylketonuria patients. J Clin Electroencephalogr 4(3):139–141Google Scholar
  13. Zhongshu Z, Weiming Y, Yukio F, Cheng L, Ning Z, Zhixing W (2001) Clinical analysis of West syndrome associated with phenylketonuria. Brain Dev 23:552–557CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  1. 1.Institute of Neurological Sciences and PsichiatryHacettepe UniversityAnkaraTurkey
  2. 2.Department of NeurologyHacettepe University School of MedicineAnkaraTurkey

Personalised recommendations