AI Article Synopsis
- The text discusses three types of organic acidurias related to 2-hydroxyglutaric acid, which lead to neurological issues in children.
- These disorders are characterized by the build-up of specific acids (D-2-HG and L-2-HG) in bodily fluids.
- The review highlights recent findings about these conditions since their initial identification in 1980, including new clinical insights from questionnaires for D-2-HGA types I and II.
Article Abstract
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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3388262 | PMC |
| http://dx.doi.org/10.1007/s10545-012-9462-5 | DOI Listing |
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