Literature DB >> 8111960

Quantification of 3-methylglutaconic acid in urine, plasma, and amniotic fluid by isotope-dilution gas chromatography/mass spectrometry.

R I Kelley1.   

Abstract

A method is described for quantification of the trace metabolite, 3-methylglutaconic acid, by isotope-dilution gas chromatography/mass spectrometry using synthetic 3-[2,4,6-13C3]methylglutaconic acid. Results are shown for quantification of 3-methylglutaconic acid in plasma, urine, cerebrospinal fluid and amniotic fluid for both normal controls and patients with different forms of 3-methylglutaconic aciduria. A simple method for the synthesis and purification of 3-[2,4,6-13C3]methylglutaconic acid is also described.

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Year:  1993        PMID： 8111960     DOI： 10.1016/0009-8981(93)90044-5

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  6 in total

1.  No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.

Authors:  Jean-Baptiste Roullet; Louise S Merkens; Anuradha S Pappu; Megan D Jacobs; Rolf Winter; William E Connor; Robert D Steiner
Journal:  J Inherit Metab Dis       Date:  2012-03-06       Impact factor: 4.982

2.  Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.

Authors:  K M Davey; J S Parboosingh; D R McLeod; A Chan; R Casey; P Ferreira; F F Snyder; P J Bridge; F P Bernier
Journal:  J Med Genet       Date:  2005-07-31       Impact factor: 6.318

Review 3.  Diversion of Acetyl CoA to 3-Methylglutaconic Acid Caused by Discrete Inborn Errors of Metabolism.

Authors:  Dylan E Jones; Elizabeth A Jennings; Robert O Ryan
Journal:  Metabolites       Date:  2022-04-21

Review 4.  A critical appraisal of the tafazzin knockdown mouse model of Barth syndrome: what have we learned about pathogenesis and potential treatments?

Authors:  Mindong Ren; Paighton C Miller; Michael Schlame; Colin K L Phoon
Journal:  Am J Physiol Heart Circ Physiol       Date:  2019-10-11       Impact factor: 4.733

5.  trans-3-Methylglutaconyl CoA isomerization-dependent protein acylation.

Authors:  Rebecca Young; Dylan E Jones; Lautaro Diacovich; Andrzej Witkowski; Robert O Ryan
Journal:  Biochem Biophys Res Commun       Date:  2020-12-04       Impact factor: 3.575

6.  Isomerization of trans-3-methylglutaconic acid.

Authors:  Dylan E Jones; J David Ricker; Laina M Geary; Dylan K Kosma; Robert O Ryan
Journal:  JIMD Rep       Date:  2020-11-11
  6 in total

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