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.

TWO YEARS EXPERIENCE OF ANALYTICAL AND DIAGNOSTIC CHALLENGES IN URINE ORGANIC ACID ANALYSIS ON GAS CHROMATOGRAPHY-MASS SPECTROMETRY

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.

Quantitative determination of short-chain organic acids in urine by capillary electrophoresis

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).

Determinacion de acilcarnitinas en sangre de caninos adultos mediante espectrometria de masa tandem

Branched chain organic acidurias. In: Scriver CR, Ceaudet AL, Valle D, Sly WS (eds).

Estudio de la variante polimorfica 625G>A del gen de la acil-CoA deshidrogenasa de cadena corta en una familia de Manizales

Organic acidurias. J Child Neurol 1991; 6: 196-219.

Bilateral temporal arachnoid cysts and glutaric aciduria type 1/iki tarafli temporal araknoid kistler ve glutarik asiduri tip 1

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).

Long-term stability of amino acids and acylcarnitines in dried blood spots

Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias. Mol Genet Metab 2000;69:30211.

2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation

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).

Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride

Organic acidurias, although clinically important, are not common, and samples are difficult to obtain.

Capillary electrophoresis for rapid profiling of organic acidurias

Description of the procedure and its application to diagnosis of patients with organic acidurias. Clin Chem 1980;26:1847-53.

Transient 5-oxoprolinuria (pyroglutamic aciduria) with systemic acidosis in an adult receiving antibiotic therapy