We are analyzing https://link.springer.com/article/10.1007/s10545-012-9462-5.

Title:
Progress in understanding 2-hydroxyglutaric acidurias | Journal of Inherited Metabolic Disease
Description:
The organic acidurias d-2-hydroxyglutaric aciduria (D-2-HGA), l-2-hydroxyglutaric aciduria (L-2-HGA), and combined d,l-2-hydroxyglutaric aciduria (D,L-2-HGA) cause neurological impairment at young age. Accumulation of d-2-hydroxyglutarate (D-2-HG) and/or l-2-hydroxyglutarate (L-2-HG) in body fluids are the biochemical hallmarks of these disorders. The current review describes the knowledge gathered on 2-hydroxyglutaric acidurias (2-HGA), since the description of the first patients in 1980. We report on the clinical, genetic, enzymatic and metabolic characterization of D-2-HGA type I, D-2-HGA type II, L-2-HGA and D,L-2-HGA, whereas for D-2-HGA type I and type II novel clinical information is presented which was derived from questionnaires.
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Keywords {🔍}

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Topics {✒️}

stable-isotope dilution analysis hypoxia-inducible factor subunit-1α gas chromatography-mass spectrometry electron transfer flavoprotein intracellular/mitochondrial d-2-hg concentrations article download pdf alpha-ketoglutarate-dependent dioxygenases da silva cg human hydroxyacid-oxoacid transhydrogenase multiple 2-kg-dependent dioxygenases l-2-hgdh enzyme activity diacetyl-l-tartaric anhydride d-2-hydroxyglutarate dehydrogenase activity creatine kinase activity deficient d-2-hgdh activity l-2-hg concentration-dependent autosomal recessively-inherited disorder full size table idh2wt/r140q-mutant acquires l-2-hydroxyglutarate dehydrogenase gene d-2-hydroxyglutarate dehydrogenase gene increasing d-2-hg concentrations proposed l-2-hydroxyglutarate dehydrogenase reduces l-2-hga excretion van der knaap form 2-aminoadipic semialdehyde directly relate l-2-hg urinary l-2-hg concentrations [13c6]glucose urinary l-2-hg excretion normal l-2-hg concentration hydroxyacid-oxoacid transhydrogenase metabolite d-2-hg contributes function produces d-2-hg d-2-hydroxyglutaric aciduria type idh2wt/r140q reaction velocity moderately increased d-2-hg residual enzyme activity d-2-hga patients divided l-2-hga l-2-hg d-2-hga d-2-hga mitochondrial energy metabolism inborn 2-hydroxyglutaric acidurias l-2-hga lymphoblasts incubated subcortical white matter d-2-hga type ii d-2-hydroxyglutaric aciduria patients excess d-2-hg formed l-2-hgdh employs fad mass isotopomer analysis

Questions {❓}

Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK (1980) L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
Gibson KM, Craigen W, Herman GE, Jakobs C (1993b) D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?
Moroni I, Bugiani M, D'Incerti L et al (2004) L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?
Muntau AC, Roschinger W, Merkenschlager A et al (2000) Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?
Struys EA, Verhoeven NM, Salomons GS et al (2006) D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?
Van der Knaap MS, Jakobs C, Hoffmann GF et al (1999b) D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?

Schema {🗺️}

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         headline:Progress in understanding 2-hydroxyglutaric acidurias
         description:The organic acidurias d-2-hydroxyglutaric aciduria (D-2-HGA), l-2-hydroxyglutaric aciduria (L-2-HGA), and combined d,l-2-hydroxyglutaric aciduria (D,L-2-HGA) cause neurological impairment at young age. Accumulation of d-2-hydroxyglutarate (D-2-HG) and/or l-2-hydroxyglutarate (L-2-HG) in body fluids are the biochemical hallmarks of these disorders. The current review describes the knowledge gathered on 2-hydroxyglutaric acidurias (2-HGA), since the description of the first patients in 1980. We report on the clinical, genetic, enzymatic and metabolic characterization of D-2-HGA type I, D-2-HGA type II, L-2-HGA and D,L-2-HGA, whereas for D-2-HGA type I and type II novel clinical information is presented which was derived from questionnaires.
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            Skeletal Dysplasia
            Succinic Semialdehyde
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            Metabolic Diseases
            Human Genetics
            Pediatrics
            Internal Medicine
            Biochemistry
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      headline:Progress in understanding 2-hydroxyglutaric acidurias
      description:The organic acidurias d-2-hydroxyglutaric aciduria (D-2-HGA), l-2-hydroxyglutaric aciduria (L-2-HGA), and combined d,l-2-hydroxyglutaric aciduria (D,L-2-HGA) cause neurological impairment at young age. Accumulation of d-2-hydroxyglutarate (D-2-HG) and/or l-2-hydroxyglutarate (L-2-HG) in body fluids are the biochemical hallmarks of these disorders. The current review describes the knowledge gathered on 2-hydroxyglutaric acidurias (2-HGA), since the description of the first patients in 1980. We report on the clinical, genetic, enzymatic and metabolic characterization of D-2-HGA type I, D-2-HGA type II, L-2-HGA and D,L-2-HGA, whereas for D-2-HGA type I and type II novel clinical information is presented which was derived from questionnaires.
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         Succinic Semialdehyde
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         Internal Medicine
         Biochemistry
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      name:Metabolic Unit - Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
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      name:Paediatric Neurology, VU University Medical Center, Amsterdam, The Netherlands
      name:Metabolic Unit - Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands

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