|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
The causative gene of L-2-HGA is L-2-hydroxyglutarate dehydrogenase gene (L2HGDH), which consists of 10 exons.
|
30217188 |
2018 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is second report of a mutation in L2HGDH gene from Pakistan and the largest family with L2HGA reported to date.
|
29458334 |
2018 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.
|
29980873 |
2018 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
Biomarker
|
disease |
MGD |
The purpose of the present work was to progress in our understanding of the pathophysiology of L-2-hydroxyglutaric aciduria, due to a defect in L-2-hydroxyglutarate dehydrogenase, by creating and studying a mouse model of this disease.
|
25763823 |
2015 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.
|
24573090 |
2014 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in L-2-hydroxyglutarate dehydrogenase lead to L-2-hydroxyglutaric aciduria, a leukoencephalopathy.
|
23296366 |
2013 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a pathogenic nonsense mutation in the L-2-HGDH gene found for the first time in an Italian patient affected by L-2-HGA, reinforcing the previously described phenotype of this rare metabolic disease and confirming the data indicating that mutations in the L-2-HGDH gene cause L-2-HGA.
|
20859647 |
2011 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
The diagnosis of L2HGA can be made based on magnetic resonance imaging (MRI), biochemical analysis, and mutational analysis of L2HGDH.
|
20052767 |
2010 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
L-2-hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a neurometabolic disorder caused by the toxic accumulation of high concentration of L-2-hydroxyglutaric acid in plasma and cerebrospinal fluid.
|
19911013 |
2010 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of L2HGA can be made based on magnetic resonance imaging (MRI), biochemical analysis, and mutational analysis of L2HGDH.
|
20052767 |
2010 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe late diagnosis of an adult with L-2-hydroxyglutaric aciduria (MIM 236792) on the basis of characteristic metabolite data and mutation analysis in the L2HGDH gene.
|
19863265 |
2009 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
L-2-Hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a rare autosomal recessive neurodegenerative disorder characterized by psychomotor delay, cerebellar and extrapyramidal signs and subcortical leukoencephalopathy with basal ganglia and dentate nuclei involvement.
|
18671189 |
2008 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
L-2-hydroxyglutaric aciduria: clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability.
|
18780161 |
2008 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
L-2-Hydroxyglutaric aciduria (L-2-OHGA) is a rare autosomal recessive neurometabolic disease linked to chromosome 14q21.1 and is caused by mutations in the gene that most likely encodes L: -2-hydroxyglutarate dehydrogenase, which normally catalyses L: -2-hydroxyglutarate to alpha-ketoglutarate.
|
17917788 |
2007 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
Taken together, these data indicate that L-2-hydroxyglutaric aciduria is due to a deficiency in L-2-hydroxyglutarate dehydrogenase.
|
16005139 |
2006 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
We analyzed the L-2-HGA gene (L2HGDH), recently found to be mutated in consanguineous families with L-2-HGA, and identified seven novel mutations in 15 families.
|
16134148 |
2005 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We analyzed the L-2-HGA gene (L2HGDH), recently found to be mutated in consanguineous families with L-2-HGA, and identified seven novel mutations in 15 families.
|
16134148 |
2005 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
|
15385440 |
2004 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
|
15385440 |
2004 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
It is concluded that L-2-hydroxyglutarate is normally metabolized to alpha-ketoglutarate in mammalian tissues and that L-2-hydroxyglutaric aciduria is caused by mutations in the gene that most likely encodes L-2-hydroxyglutarate dehydrogenase.
|
15548604 |
2004 |
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
L-2-HYDROXYGLUTARIC ACIDURIA
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|