Literature DB >> 1779611

Rapid diagnosis of medium-chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in plasma.

S J Heales1, D A Woolf, P Robinson, J V Leonard.   

Abstract

Plasma concentrations of octanoate and cis-4-decenoate were measured by gas chromatography-mass spectrometry in children with deficiencies of medium-chain acyl-CoA dehydrogenase (MCAD), long-chain 3-hydroxyacyl-CoA dehydrogenase (3LHAD) and multiple acyl-CoA dehydrogenase (MAD) deficiency. Children receiving medium- and long-chain lipid supplements were also studied. Octanoate was elevated in all but one of the children with MCAD deficiency, in MAD deficiency and in children receiving medium-chain triglyceride supplementation. Cis-4-decenoate was only elevated in MCAD and MAD deficiency. It is concluded that measurement of plasma cis-4-decenoate provides a sensitive and specific test for defects of medium-chain acyl CoA dehydrogenase.

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Year:  1991        PMID： 1779611     DOI： 10.1007/bf01799930

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


  5 in total

1.  Frequency of the G985 MCAD mutation in the general population.

Authors:  A I Blakemore; H Singleton; R J Pollitt; P C Engel; S Kolvraa; N Gregersen; D Curtis
Journal:  Lancet       Date:  1991-02-02       Impact factor: 79.321

2.  Mutations in medium chain acyl-CoA dehydrogenase deficiency.

Authors: 
Journal:  Lancet       Date:  1990-09-22       Impact factor: 79.321

3.  Cis-4-decenoic acid in plasma: a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  M Duran; L Bruinvis; D Ketting; J B de Klerk; S K Wadman
Journal:  Clin Chem       Date:  1988-03       Impact factor: 8.327

4.  Determination of medium chain fatty acids in serum.

Authors:  C Dionisi Vici; C Bachmann; M Gradwoht; J P Colombo
Journal:  Clin Chim Acta       Date:  1988-03-15       Impact factor: 3.786

5.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Authors:  S Jackson; K Bartlett; J Land; E R Moxon; R J Pollitt; J V Leonard; D M Turnbull
Journal:  Pediatr Res       Date:  1991-04       Impact factor: 3.756
  5 in total
  4 in total

1.  Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.

Authors:  W Onkenhout; V Venizelos; H R Scholte; J B De Klerk; B J Poorthuis
Journal:  J Inherit Metab Dis       Date:  2001-06       Impact factor: 4.982

2.  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

Authors:  J L Van Hove; W Zhang; S G Kahler; C R Roe; Y T Chen; N Terada; D H Chace; A K Iafolla; J H Ding; D S Millington
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

3.  Production and disposal of medium-chain fatty acids in children with medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  S J Heales; G N Thompson; A F Massoud; S Rahman; D Halliday; J V Leonard
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

4.  Plasma cis-dec-4-enoic acid measured by isotope dilution mass spectrometry; an improved assay to diagnose medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  D W Johnson; J R Harrison; W A Norton; A Poulos; E F Robertson
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982
  4 in total

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