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, sa.1, ss.44-46, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 16 Sayı: 1
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1097/nrl.0b013e31819f9556
  • Dergi Adı: Neurologist
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.44-46
  • Anahtar Kelimeler: L-2-hydroxy glutaric aciduria, epilepsy, MRI findings, adult cases, ACIDEMIA, DEHYDROGENASE, DISEASE, MRI
  • Hacettepe Üniversitesi Adresli: Evet

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.