organic aciduria


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organic aciduria

(1) Organic acidaemia, see there.
(2) Lowe’s oculocerebrorenal syndrome.
References in periodicals archive ?
In the absence of other raised specific organic acids, these samples were reported as absent for any significant organic aciduria.
A total of 11 different organic acidurias were diagnosed.
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.
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.
organic acidurias such as glutaryl-CoA dehydrogenase, 3-hydroxy-3-methylglutaryl-CoA lyase, [beta]-ketothiolase, Propionyl-CoA carboxylase, Methylmalonyl-CoA mutase, and Isovaleryl-CoA dehydrogenase) (Vreken et al., 1999).
Branched chain organic acidurias. In: Scriver CR, Ceaudet AL, Valle D, Sly WS (eds).
With ~100% sensitivity and specificity, ESI-MS/MS has become the predominant technique for neonatal screening of dried blood on filter cards for inborn errors of metabolism, including amino acidopathies, fatty acid oxidation disorders, and organic acidurias (3).
Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias. Mol Genet Metab 2000;69:30211.
Little is known about the underlying metabolic and genetic defects that lead to these organic acidurias. Recently, using mass isotopomer analyses of labeled products formed by human lymphoblasts grown on media supplemented with labeled substrates, we found that there is a strong metabolic relationship between D-2-HG and the Krebs cycle intermediate 2-ketoglutarate (4).
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. Clin Chem 1980;26:1847-53.