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

Karatas, HÜLYA; SAYGI, SERAP; Bastan, BİRGÜL; Eker, Amber; Kursun, Oguzhan; AYHAN, YAVUZ; Ciger, ABDURRAHMAN

doi:10.1097/nrl.0b013e31819f9556

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, Scopus)

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.