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

Ayrıntılar

Birincil Dil

Türkçe

Konular

-

Bölüm

-

Yazarlar

Kömür M

Balcı S

Kursel O

Okuyaz Ç

Yayımlanma Tarihi

1 Mart 2012

Gönderilme Tarihi

1 Mart 2012

Kabul Tarihi

-

Yayımlandığı Sayı

Yıl 2012 Cilt: 51 Sayı: 1

IZ

https://izlik.org/JA77EB53YC

Kaynak Göster

RIS / Bibtex

Vancouver

1.Kömür M, Balcı S, Kursel O, Okuyaz Ç. L-2-hidroksi glutarik asidüri. ETD [Internet]. 01 Mart 2012;51(1):51-3. Erişim adresi: https://izlik.org/JA77EB53YC

L-2-hidroksi glutarik asidüri

L-2-hydroxyglutaric aciduria

Abstract

Keywords