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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Published inÇukurova Üniversitesi tip fakültesi dergisi Vol. 39; no. 4; pp. 868 - 871
Main Authors Faruk incecik, Neslihan Mungan, Ozlem Mihriban Herguner, Deniz Kor, Berna seker, Sakir Altunbasak
Format Journal Article
LanguageEnglish
Published Cukurova University 01.08.2014
Subjects
clinical findings
L-2-hydroxiglutaric aciduria
treatment
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Summary: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]
ISSN:0250-5150