L-2-hidroksi glutarik asidüri

Kömür M; Balcı S; Kursel O; Okuyaz Ç

EN TR

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.

Keywords

L-2-hydroxyglutaric aciduria, macrocephaly, child

Details

Primary Language

Turkish

Subjects

-

Journal Section

-

Authors

Kömür M

Balcı S

Kursel O

Okuyaz Ç

Publication Date

March 1, 2012

Submission Date

March 1, 2012

Acceptance Date

-

Published in Issue

Year 2012 Volume: 51 Number: 1

IZ

https://izlik.org/JA77EB53YC

Cite

RIS / Bibtex

Vancouver

1.Kömür M, Balcı S, Kursel O, Okuyaz Ç. L-2-hidroksi glutarik asidüri. EJM [Internet]. 2012 Mar. 1;51(1):51-3. Available from: https://izlik.org/JA77EB53YC

L-2-hydroxyglutaric aciduria

L-2-hydroxyglutaric aciduria

Abstract

Keywords