Clinical and electrophysiological findings in patients with phenylketonuria and epilepsy: Reflex features

Celik S. Y. , Bebek N. , Gurses C. , Baykan B. , Gokyigit A.

EPILEPSY & BEHAVIOR, cilt.82, ss.46-51, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 82
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1016/j.yebeh.2018.02.024
  • Sayfa Sayıları: ss.46-51


Objective: Phenyl ketonuria (PKU) is the most common form of amino acid metabolism disorders with autosomal recessive inheritance. The brain damage can be prevented by early diagnosis and a phenylalanine-restricted diet. Untreated or late-treated patients may show mental retardation and other cognitive dysfunctions, as well as motor disability and/or epilepsy.