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Combined D-2- and L-2-hydroxyglutaric aciduria

Known as: COMBINED D-2- AND L-2 -HYDROXYGLUTARIC ACIDURIA, L-2-Hydroxyglutaric Acidemia, 2-Hydroxyglutaricaciduria 
A group of genetic disorders characterized by elevated urinary concentrations of 2-hydroxyglutaric acid. Three different types have been identified… 
National Institutes of Health

Related topics

Related topics

11 relations
Autosomal recessive inheritanceCerebellar HypoplasiaDyspneaEncephalopathies

Broader (1)

Brain Diseases, Metabolic, Inborn

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2
The 2-hydroxyglutaric aciduria (2-HGA) is a rare neurometabolic disorder that leads to the development of brain damage. It is… 
Highly Cited
2002
Highly Cited
2002
NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d‐2‐hydroxyglutaric aciduria
The inherited neurometabolic disease d‐2‐hydroxyglutaric aciduria is complicated by progressive neurodegeneration of vulnerable… 
Highly Cited
2001
Highly Cited
2001
Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is considered a rare inherited mitochondrial fatty acid oxidation disorder… 
Highly Cited
2000
Highly Cited
2000
Combined D-2- and L-2-Hydroxyglutaric Aciduria with Neonatal Onset Encephalopathy: A Third Biochemical Variant of 2-Hydroxyglutaric Aciduria?
Two distinct disorders with elevated urinary excretion of 2-hydroxyglutaric acid are known: L-2-hydroxyglutaric aciduria and D-2… 
Review
1999
Review
1999
D‐2‐Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?
D‐2‐Hydroxyglutaric aciduria has been observed in patients with extremely variable clinical symptoms, creating doubt about the… 
1997
1997
D-2-Hydroxyglutaric Aciduria: Hypotonia, Cortical Blindness, Seizures, Cardiomyopathy, and Cylindrical Spirals in Skeletal Muscle
An infant girl was demonstrated to have D-2-hydroxyglutaric aciduria, the fifth case described and the first with muscle biopsy… 
Highly Cited
1993
Highly Cited
1993
Stable-Isotope Dilution Analysis of D- and L-2-Hydroxyglutaric Acid: Application to the Detection and Prenatal Diagnosis of D- and L-2-Hydroxyglutaric Acidemias
ABSTRACT: A stable-isotope dilution assay has been developed for quantitation of D- and L-2-hydroxyglutaric acids in physiologic… 
1993
1993
d-2-Hydroxyglutaric aciduria in a newborn with neurological abnormalities: A new neurometabolic disorder?
2-Hydroxyglutaric (2-HG) acid is a normal component of human urine (4-36 mmol/mol creatinine) and occurs in D and L… 
Highly Cited
1980
Highly Cited
1980
D-2-hydroxyglutaric aciduria: Case report and biochemical studies
A patient with protein-losing gastroenteropathy and egg allergy has been shown to have a previously unrecognized organic aciduria… 
1979
1979
Measurement of 4-hydroxyphenylacetic aciduria as a screening test for small-bowel disease.
We evaluted measurement of urinary 4-hydroxyphenyl acetic acid as a potential screening method for small-bowel disease and… 
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