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, vol.82, pp.46-51, 2018 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 82
  • Publication Date: 2018
  • Doi Number: 10.1016/j.yebeh.2018.02.024
  • Title of Journal : EPILEPSY & BEHAVIOR
  • Page Numbers: pp.46-51

Abstract

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.