L-2-hydroxiglutaric aciduria: Three case reports
oleh: Faruk incecik, Neslihan Mungan, Ozlem Mihriban Herguner, Deniz Kor, Berna seker, Sakir Altunbasak
| Format: | Article |
|---|---|
| Diterbitkan: | Cukurova University 2014-08-01 |
Deskripsi
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]