Proton NMR spectroscopic analysis of multiple acyl-CoA dehydrogenase deficiency-capacity of the choline oxidation pathway for methylation in vivo

Shamus P. Burns, Heather C. Holmes, Ronald A. Chalmers, Andrew Johnson, Richard A. Iles

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Proton NMR spectra of urine from subjects with multiple acyl-CoA dehydrogenase deficiency, caused by defects in either the electron transport flavoprotein or electron transport flavoprotein ubiquinone oxidoreductase, provide a characteristic and possibly diagnostic metabolite profile. The detection of dimethylglycine and sarcosine, intermediates in the oxidative degradation of choline, should discriminate between multiple acyl-CoA dehydrogenase deficiency and related disorders involving fatty acid oxidation. The excretion rates of betaine, dimethylglycine (and sarcosine) in these subjects give an estimate of the minimum rates of both choline oxidation and methyl group release from betaine and reveal that the latter is comparable with the calculated total body methyl requirement in the human infant even when choline intake is very low. Our results provide a new insight into the rates of in vivo methylation in early human development. Copyright (C) 1998 Elsevier Science B.V.
Original languageEnglish
Pages (from-to)274-282
Number of pages9
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Volume1406
Issue number3
DOIs
Publication statusPublished - 28 Apr 1998
Externally publishedYes

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Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Choline
Sarcosine
Methylation
Protons
Flavoproteins
Betaine
Electron Transport
Ubiquinone
Human Development
Oxidoreductases
Fatty Acids
Urine
dimethylglycine

Cite this

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abstract = "Proton NMR spectra of urine from subjects with multiple acyl-CoA dehydrogenase deficiency, caused by defects in either the electron transport flavoprotein or electron transport flavoprotein ubiquinone oxidoreductase, provide a characteristic and possibly diagnostic metabolite profile. The detection of dimethylglycine and sarcosine, intermediates in the oxidative degradation of choline, should discriminate between multiple acyl-CoA dehydrogenase deficiency and related disorders involving fatty acid oxidation. The excretion rates of betaine, dimethylglycine (and sarcosine) in these subjects give an estimate of the minimum rates of both choline oxidation and methyl group release from betaine and reveal that the latter is comparable with the calculated total body methyl requirement in the human infant even when choline intake is very low. Our results provide a new insight into the rates of in vivo methylation in early human development. Copyright (C) 1998 Elsevier Science B.V.",
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Proton NMR spectroscopic analysis of multiple acyl-CoA dehydrogenase deficiency-capacity of the choline oxidation pathway for methylation in vivo. / Burns, Shamus P.; Holmes, Heather C.; Chalmers, Ronald A.; Johnson, Andrew; Iles, Richard A.

In: Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1406, No. 3, 28.04.1998, p. 274-282.

Research output: Contribution to journalArticle

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AU - Burns, Shamus P.

AU - Holmes, Heather C.

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AU - Iles, Richard A.

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