Literature DB >> 1779612

Organic acids in aqueous humour and plasma: post mortem study in infants and diagnosis of enzymopathies.

M M Coude1, C Charpentier, J P Bonnefont, G Cheron, P Kamoun.   

Abstract

Organic acids have been determined in aqueous humour and plasma by gas chromatography-mass spectrometry in 38 cases of infant death and 4 cases of inherited metabolic disease: one had a complex fatty-acid oxidation disorder with a large urinary excretion of adipic acid, the others had a disorder of propionate catabolism with a large urinary excretion of methylmalonic acid. In each case we found in aqueous humour the abnormal metabolite present in urine. Thus aqueous humour could be a suitable material for retrospective diagnosis of inherited metabolic diseases at autopsy in sudden infant death syndrome.

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Year:  1991        PMID： 1779612     DOI： 10.1007/bf01799931

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  9 in total

1.  Lethal multiple acyl-CoA dehydrogenation deficiency with dysmorphic features.

Authors:  M J Bennett; R J Pollitt; J M Land; M J Turner; C H Cheetham
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

2.  Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis.

Authors:  M Coude; J P Bonnefont; C Charpentier; B Chadefaux; J M Saudubray; P Kamoun
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  Routine gas chromatographic/mass spectrometric analysis of urinary organic acids. Results over a three-year period.

Authors:  P Divry; C Vianey-Liaud; J Cotte
Journal:  Biomed Environ Mass Spectrom       Date:  1987-11

4.  Free amino acid content of the vitreous humour in cot deaths.

Authors:  W J Patrick; R W Logan
Journal:  Arch Dis Child       Date:  1988-06       Impact factor: 3.791

5.  Studies on the urinary acidic metabolites excreted by patients with beta-methylcrotonylglycinuria, propionic acidaemia and methylmalonic acidaemia, using gas-liquid chromatography and mass spectrometry.

Authors:  R A Chalmers; A M Lawson; R W Watts
Journal:  Clin Chim Acta       Date:  1974-03       Impact factor: 3.786

6.  Determination of alpha-keto acids as silylated oximes in urine and serum by combined gas chromatography-mass spectrometry.

Authors:  H J Sternowsky; J Roboz; F Hutterer; G Gaull
Journal:  Clin Chim Acta       Date:  1973-09-14       Impact factor: 3.786

Review 7.  Investigation of inborn errors of metabolism in unexpected infant deaths.

Authors:  J L Emery; A J Howat; S Variend; G F Vawter
Journal:  Lancet       Date:  1988-07-02       Impact factor: 79.321

8.  Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.

Authors:  M Duran; M Hofkamp; W J Rhead; J M Saudubray; S K Wadman
Journal:  Pediatrics       Date:  1986-12       Impact factor: 7.124

9.  Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency.

Authors:  J P Harpey; C Charpentier; M Coudé; P Divry; M Paturneau-Jouas
Journal:  J Pediatr       Date:  1987-06       Impact factor: 4.406
  9 in total

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