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Chemical Compound Review:

AC1MI0E5 5-(1-carboxy-2- trimethylammonio-ethoxy)-5...

Synonyms: 109006-11-3

This record was replaced with 3036009.

Sauer, S.W. et al., Kölker, S. et al., Barić, I. et al., Napolitano, N. et al., Kölker, S. et al., et al.

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Disease relevance of [2-carboxy-2-(4-carboxybutanoyloxy)ethyl]-trimethyl-ammonium

Diagnosis depends upon the recognition of relatively non-specific physical findings such as hypotonia, irritability and macrocephaly, and on performance of urine organic acid quantification by gas chromatography--mass spectrometry or selective searches of urine or blood specimens by tandem mass spectrometry for glutarylcarnitine [1].

High impact information on [2-carboxy-2-(4-carboxybutanoyloxy)ethyl]-trimethyl-ammonium

Concentrations of GA, 3-OH-GA and glutarylcarnitine were significantly elevated in all tissues of Gcdh(-/-) mice [2].
One patient excreted ethylmalonic acid, butyrylcarnitine, and glutarylcarnitine during and after resolution of coma, suggesting a multiple acyl coenzyme A dehydrogenation defect [3].
In addition, it is suggested that the combination of the ratios of glutarylcarnitine, isovaleryl-carnitine, and hexanoylcarnitine to propionylcarnitine may be useful for the prenatal diagnosis of glutaric aciduria type II [4].
Magnetic resonance imaging showed bilateral striatal necrosis and raised glutarylcarnitine levels on tandem mass spectrometry of a (crisis) blood spot, and chromatography of organic acids revealed increased urinary excretion of dicarboxylic acid [5].
As well as characteristic increases in C(8) carnitine, dried blood spot samples from 11 newborns with medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry screening using butyl esters showed apparent increases in glutarylcarnitine (m / z 388 signals) [6].

Anatomical context of [2-carboxy-2-(4-carboxybutanoyloxy)ethyl]-trimethyl-ammonium

As cerebral concentrations of GA and 3-OH-GA have not yet been studied systematically, we investigated the tissue-specific distribution of these organic acids and glutarylcarnitine in brain, liver, skeletal and heart muscle of Gcdh-deficient mice as well as in hepatic Gcdh(-/-) mice and in C57Bl/6 mice following intraperitoneal loading [2].
In the present study, we investigated post mortem the distribution of 3-hydroxyglutaric and glutaric acids as well as glutarylcarnitine in 14 different brain regions, internal organs, and body fluids (urine, plasma, cerebrospinal fluid) in a 14-year-old boy [7].
The glutarylcarnitine concentration was also highest in the putamen (7.1 nmol/g protein) [7].

Associations of [2-carboxy-2-(4-carboxybutanoyloxy)ethyl]-trimethyl-ammonium with other chemical compounds

Biochemically, the disease is characterized by accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine, which can be detected by gas chromatography-mass spectrometry of organic acids or tandem mass spectrometry of acylcarnitines [8].

Analytical, diagnostic and therapeutic context of [2-carboxy-2-(4-carboxybutanoyloxy)ethyl]-trimethyl-ammonium

GA I may be recognized in routine neonatal screening performed with tandem mass spectrometry by an elevation of glutarylcarnitine [9].
This method (liquid chromatography) can quantify twelve acylcarnitines including glutarylcarnitine and 3 isomeric acylcarnitines (butyryl-1, valeryl- and octanoylisomer) in urine [10].

References

Diagnosis and management of glutaric aciduria type I. Barić, I., Zschocke, J., Christensen, E., Duran, M., Goodman, S.I., Leonard, J.V., Müller, E., Morton, D.H., Superti-Furga, A., Hoffmann, G.F. J. Inherit. Metab. Dis. (1998) [Pubmed]
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency. Sauer, S.W., Okun, J.G., Fricker, G., Mahringer, A., Müller, I., Crnic, L.R., Mühlhausen, C., Hoffmann, G.F., Hörster, F., Goodman, S.I., Harding, C.O., Koeller, D.M., Kölker, S. J. Neurochem. (2006) [Pubmed]
Valproate-induced coma with ketosis and carnitine insufficiency. Triggs, W.J., Bohan, T.P., Lin, S.N., Willmore, L.J. Arch. Neurol. (1990) [Pubmed]
Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines. Shigematsu, Y., Hata, I., Nakai, A., Kikawa, Y., Sudo, M., Tanaka, Y., Yamaguchi, S., Jakobs, C. Pediatr. Res. (1996) [Pubmed]
Acute bilateral striatal necrosis with rotavirus gastroenteritis and inborn metabolic predisposition. Mordekar, S., Jaspan, T., Sharrard, M., Morton, R., Whitehouse, W.P. Developmental medicine and child neurology. (2005) [Pubmed]
Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening. Napolitano, N., Wiley, V., Pitt, J.J. J. Inherit. Metab. Dis. (2004) [Pubmed]
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. Kölker, S., Hoffmann, G.F., Schor, D.S., Feyh, P., Wagner, L., Jeffrey, I., Pourfarzam, M., Okun, J.G., Zschocke, J., Baric, I., Bain, M.D., Jakobs, C., Chalmers, R.A. Neuropediatrics. (2003) [Pubmed]
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). Kölker, S., Christensen, E., Leonard, J.V., Greenberg, C.R., Burlina, A.B., Burlina, A.P., Dixon, M., Duran, M., Goodman, S.I., Koeller, D.M., Müller, E., Naughten, E.R., Neumaier-Probst, E., Okun, J.G., Kyllerman, M., Surtees, R.A., Wilcken, B., Hoffmann, G.F., Burgard, P. Journal of inherited metabolic disease (2007) [Pubmed]
Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy. Hoffmann, G.F., Zschocke, J. J. Inherit. Metab. Dis. (1999) [Pubmed]
Urinary acylcarnitines in a patient with neonatal multiple acyl-CoA dehydrogenation deficiency, quantified by a carboxylic acid analyzer with a reversed-phase column. Kidouchi, K., Niwa, T., Nohara, D., Asai, K., Sugiyama, N., Morishita, H., Kobayashi, M., Wada, Y. Clin. Chim. Acta (1988) [Pubmed]

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