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Disease2-HYDROXYGLUTARIC ACIDURIA (D)
SynonymD-2-HYDROXYGLUTARIC ACIDURIA;
OMIM600721 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes
OMIM = Online Medalian Inheritance of Men
Orphanet Short summery, also for non professionals on www.orpha.net
Enzymed-2-hydroxyglutarate dehydrogenase
Gene locus 2q37.3
genetests.org search search on genetest.org by MIM 600721
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Testing - View a listing of laboratories that provide clinical testing for this disorder
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Summaryrare autosomal recessive biochemical variant of 2-hydroxyglutaric aciduria: - L-2-hydroxyglutaric aciduria - D-2-hydroxyglutaric aciduria - combined D-2- and L-2-hydroxyglutaric aciduria
Clinical symptoms
Abnormal Findings in
plasma
  • 2-Hydroxyglutaric acid (D)
    Normal: 0.30-0.90 µmol/l | Significant : 62.00-73.00 µmol/l
Abnormal Findings in
spinal fluid
  • 2-Hydroxyglutaric acid (D)
    Normal: 0.10-0.30 µmol/l | Significant : -25.00 µmol/l
  • gamma-Aminobutyric acid
    Normal: 0.00-0.10 µmol/l | Significant : - increased
Abnormal Findings in
urine
  • 2-Hydroxyglutaric acid (D)
    Normal: 3.00-17.00 mmol/mol creatinine | Significant : 730.00-1747.00 mmol/mol creatinine
  • 2-Oxoglutaric acid
    Normal: 50.00-152.00 mmol/mol creatinine | Significant : - normal/increased
Treatment
  • no specific treatment
Picture 127 GC-MS spectrum of sylyl esters (triTMS) in a patient with 2-hydroxyglutaric aciduria
Picture 126 GC-MS spectrum of sylyl esters in a patient with 2-hydroxyglutaric aciduria
LiteratureThere are 22 publications available.
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