L-2-hydroxiglutaric aciduria: Three case reports

L-2-hydroxiglutaric aciduria: Three case reports

L-2-hydroxiglutaric aciduria is a rare, autosomal recessive inherited metabolic disorder. The disease is characterized by intellectual disability, ataxia, extrapyramidal signs and seizures. Diagnosis is made by cranial magnetic resonance imaging and urine organic acid analysis. In this report, we pr...

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Bibliographic Details
Main Authors: Faruk incecik, Neslihan Mungan, Ozlem Mihriban Herguner, Deniz Kor, Berna seker, Sakir Altunbasak
Format: Article
Language:English
Published: Cukurova University 2014-08-01
Series:Çukurova Üniversitesi Tıp Fakültesi Dergisi
Subjects:
L-2-hydroxiglutaric aciduria
clinical findings
treatment
Online Access:http://www.scopemed.org/fulltextpdf.php?mno=150466

Internet

http://www.scopemed.org/fulltextpdf.php?mno=150466

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