L-2-hydroxyglutaric aciduria–review of literature and case series
S Ahmed, A Siddiqui, RJ DeBerardinis… - Annals of Medicine …, 2023 - journals.lww.com
Background: L-2-hydroxyglutaric aciduria (L2HGA) is an autosomal recessive, slowly
progressive neurodegenerative disease characterized by psychomotor delay and cerebellar …
progressive neurodegenerative disease characterized by psychomotor delay and cerebellar …
Structure and biochemical characterization of l-2-hydroxyglutarate dehydrogenase and its role in the pathogenesis of l-2-hydroxyglutaric aciduria
J Yang, X Chen, S Jin, J Ding - Journal of Biological Chemistry, 2024 - ASBMB
l-2-hydroxyglutarate dehydrogenase (L2HGDH) is a mitochondrial membrane–associated
metabolic enzyme, which catalyzes the oxidation of l-2-hydroxyglutarate (l-2-HG) to 2 …
metabolic enzyme, which catalyzes the oxidation of l-2-hydroxyglutarate (l-2-HG) to 2 …
In silico analysis of the L-2-hydroxyglutarate dehydrogenase gene mutations and their biological impact on disease etiology
The L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene encodes an important
mitochondrial enzyme. However, its altered activity results in excessive levels of L-2 …
mitochondrial enzyme. However, its altered activity results in excessive levels of L-2 …
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family
M Muzammal, MZ Ali, B Brugger, J Blatterer… - Metabolic Brain …, 2022 - Springer
Abstract Background L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic
disorder that occurs due to accumulation of L-2-hydroxyglutaric acid in the cerebrospinal …
disorder that occurs due to accumulation of L-2-hydroxyglutaric acid in the cerebrospinal …
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria
W Peng, XW Ma, X Yang, WQ Zhang, L Yan… - BMC Medical …, 2018 - Springer
Abstract Background L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria
neurometabolic disease that is inherited as an autosomal recessive mode and have a …
neurometabolic disease that is inherited as an autosomal recessive mode and have a …
[HTML][HTML] A case report of chronic progressive pancerebellar syndrome with leukoencephalopathy: L‐2 hydroxyglutaric aciduria
H Shah, M Chandarana, J Sheth… - … Disorders Clinical Practice, 2020 - ncbi.nlm.nih.gov
Discussion First described by Duran and colleagues4 and later characterized by Barth and
colleagues, 2 L2HGA is a rare autosomal recessive organic aciduria exclusively affecting …
colleagues, 2 L2HGA is a rare autosomal recessive organic aciduria exclusively affecting …
L-2-hydroxyglutaric aciduria: a report of clinical, radiological, and genetic characteristics of two siblings from Egypt
ABSTRACT L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare autosomal recessive disease
characterized by elevated levels of hydroxyglutaric acid in the body fluids and brain with …
characterized by elevated levels of hydroxyglutaric acid in the body fluids and brain with …
A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review
Y Zhang, C Wang, K Yang, S Wang, G Tian… - Neurological …, 2018 - Springer
Objective L-2-hydroxyglutaric aciduria is a genetic metabolic disorder. Its clinical features
include elevated levels of hydroxyglutaric acid in body fluids and abnormal magnetic …
include elevated levels of hydroxyglutaric acid in body fluids and abnormal magnetic …
[PDF][PDF] In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology. Genes 2022, 13, 698
The L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene encodes an important
mitochondrial enzyme. However, its altered activity results in excessive levels of L-2 …
mitochondrial enzyme. However, its altered activity results in excessive levels of L-2 …
[PDF][PDF] Case Report: L-2-Hydroxyglutaric Aciduria in Sibling Sisters
RB Bayramov, MM Sariyeva… - American Journal of …, 2022 - academia.edu
Our case report presents one of the rarely seen disorders L-2-hydroxyglutaric aciduria. Very
little information is given in the literature and it remained undiagnosed until the 1980s …
little information is given in the literature and it remained undiagnosed until the 1980s …