Literature DB >> 1444166

Comparison of post-mortem urinary and vitreous humour organic acids.

M J Bennett1, M C Ragni, I Hood, D E Hale.   

Abstract

We have analysed organic acid profiles in 74 samples of post-mortem vitreous humour from the sudden infant death syndrome and compared the profiles to those obtained from the corresponding urine or bladder wall swab. There was a high degree of correlation indicating that vitreous humour analysis in high-risk infants is an appropriate analytical strategy when urine is not available. In our patient sample two infants had evidence of abnormal methylmalonic acid metabolism, one had glyceric aciduria (and elevated levels of vitreous humour glyceric acid), one had evidence of pre-existing liver damage as judged by the presence of 4-hydroxyphenyllactic acid, one had a non-ketotic dicarboxylic aciduria indicating inhibited fatty acid oxidation and two patients had significant long-chain 3-hydroxydicarboxylic acids and evidence of paracetamol ingestion.

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Year:  1992        PMID: 1444166     DOI: 10.1177/000456329202900509

Source DB:  PubMed          Journal:  Ann Clin Biochem        ISSN: 0004-5632            Impact factor:   2.057


  5 in total

1.  Hypoketonuric 3-hydroxydicarboxylic aciduria in five patients with glycogen storage disease.

Authors:  C E Mize; L J Waber; T Anderson; M J Bennett
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

2.  Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD).

Authors:  Yuanquan Song; Mary A Selak; Corey T Watson; Christopher Coutts; Paul C Scherer; Jessica A Panzer; Sarah Gibbs; Marion O Scott; Gregory Willer; Ronald G Gregg; Declan W Ali; Michael J Bennett; Rita J Balice-Gordon
Journal:  PLoS One       Date:  2009-12-17       Impact factor: 3.240

3.  Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  J Bergoffen; P Kaplan; D E Hale; M J Bennett; G T Berry
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

4.  Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.

Authors:  Takuma Yamamoto; Hiroyuki Mishima; Hajime Mizukami; Yuki Fukahori; Takahiro Umehara; Takehiko Murase; Masamune Kobayashi; Shinjiro Mori; Tomonori Nagai; Tatsushige Fukunaga; Seiji Yamaguchi; Koh-Ichiro Yoshiura; Kazuya Ikematsu
Journal:  Mol Genet Metab Rep       Date:  2015-10-02

5.  Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency.

Authors:  Seok-Hyung Kim; Sarah A Scott; Michael J Bennett; Robert P Carson; Joshua Fessel; H Alex Brown; Kevin C Ess
Journal:  PLoS Genet       Date:  2013-06-13       Impact factor: 5.917

  5 in total

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