Author/Authors :
Kömür, M Mersin Üniversitesi - Tıp Fakültesi - Çocuk Sağlığı ve Hastalıkları, Çocuk Nöroloji Bilim Dalı, Turkey , Balcı, S Mersin Üniversitesi - Tıp Fakültesi - Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Turkey , Kursel, O Mersin Üniversitesi - Tıp Fakültesi - Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Turkey , Okuyaz, Ç Mersin Üniversitesi - Tıp Fakültesi - Çocuk Sağlığı ve Hastalıkları, Çocuk Nöroloji Bilim Dalı, Turkey
Title Of Article :
L-2-hydroxyglutaric aciduria
Abstract :
L-2-hydroxyglutaric aciduria is a rare, autosomal recessive inherited neurometabolic disease affecting the central nervous system. The disease is characterized by mental retardation, behavior disorder, ataxia, epileptic seizures and macrocephaly. Brain magnetic resonance imaging reveals alterations in the bilateral symmetric basal ganglia, subcortical white matter and dentat nuclei. Diagnosis is confirmed by increased levels of L-2-hydroxyglutaric acid in urine, plasma or cerebrospinal fluid. In this report, a 9-year-old boy presented with behavior disorder, seizure, and failure in school performance and was diagnosed with L-2-hydroxyglutaric aciduria. This report discusses this rare disease and new therapeutic approaches.
NaturalLanguageKeyword :
L , 2 , hydroxyglutaric aciduria , macrocephaly , child
JournalTitle :
Ege Journal Of Medicine
