organic aciduria


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organic aciduria

(1) Organic acidaemia, see there.
(2) Lowe’s oculocerebrorenal syndrome.
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Among the organic acidurias, the basic defects in d-2hydroxyglutaric aciduria (D-2-HGA), [1] l-2-hydroxyglutaric aciduria (L-2-HGA), and the combined d/l-2-hydroxyglutaric aciduria (D/L-2-HGA) remain mysteries.
The enantiomeric analysis of D- and L-2-HG in urine, plasma, and CSF, in many cases preceded by urinary organic acid analysis, is the only reliable biochemical tool for the diagnosis of these organic acidurias (8).
Because a large number of organic acids are found in urine (3), we selected an homogeneous group of analytes that are specific markers of organic acidurias (2, 4-8) to develop the methodology.
Determination of organic acids by capillary electrophoresis in screening of organic acidurias.
Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias.
Organic acidurias, although clinically important, are not common, and samples are difficult to obtain.
Description of the procedure and its application to diagnosis of patients with organic acidurias.