L-2-hydroxyglutaric aciduria: Report of four Turkish adult patients


Karatas H. , SAYGI S. , Bastan B. , Eker A., Kursun O., AYHAN Y. , ...Daha Fazla

Neurologist, cilt.16, ss.44-46, 2010 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 16 Konu: 1
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1097/nrl.0b013e31819f9556
  • Dergi Adı: Neurologist
  • Sayfa Sayıları: ss.44-46

Özet

Background: L-2-Hydroxyglutaric aciduria is a rare progressive neurometabolic disorder of childhood inherited as an autosomal recessive trait. Urine organic-acid screening is necessary for its diagnosis. Although it is a disorder of childhood, recently adult cases have been reported.