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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

Papers overview

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2016
2016
OBJECTIVE To explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria. METHODS Exons of 3 candidate… 
2013
2013
l-2-Hydroxyglutaric aciduria is a rare autosomal recessively inherited metabolic disorder of organic acid metabolism. Clinical… 
2010
2010
2-HYDROXYGLUTARIC aciduria (2-HGA) represents a group of metabolic disorders that cause progressive damage to the brain. These… 
1993
1993
2-Hydroxyglutaric (2-HG) acid is a normal component of human urine (4-36 mmol/mol creatinine) and occurs in D and L… 
Review
1991
Review
1991
Two cases of N-acetylaspartic aciduria in siblings are described and compared to the 18 cases already reported. The disease… 
1985
1985
α-Aminoadipic acid and α-ketoadipic acid are intermediates of lysine catabolism; they are synthetized mainly via the saccharopine… 
1979
1979
We evaluted measurement of urinary 4-hydroxyphenyl acetic acid as a potential screening method for small-bowel disease and… 
1977
1977
A protocol is described for the comprehensive screening of acutely ill neonates and infants for inherited metabolic diseases…