L-2-hydroxiglutaric aciduria: Three case reports

Abstract

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 presented three patients with L-2-hydroxiglutaric aciduria. [Cukurova Med J 2014; 39(4.000): 868-871]

Keywords

• L-2-hydroxiglutaric aciduria
• clinical findings
• treatment