Literature DB >> 618687

The variability of metabolite excretion in propionicacidaemia.

M Duran, D Gompertz, L Bruinvis, D Ketting, S K Wadman.   

Abstract

Random urine samples from eight patients with propionicacidaemia were analyzed by gas chromatography and mass spectrometry in order to see if a consistent metabolite pattern with a high diagnostic value could be found. However, wide variations were observed. The presence of 3-hydroxypropionate and/or methylcitrate were considered to be diagnostic of propionyl-CoA carboxylase deficiency. In addition, samples from ketotic periods frequently contained 3-hydroxy-n-valerate and 3-oxo-n-valerate.

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Year:  1978        PMID： 618687     DOI： 10.1016/0009-8981(78)90030-x

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


  14 in total

1.  Direct identification of propionylcarnitine in propionic acidaemia: biochemical and clinical results of oral carnitine supplementation.

Authors:  M Duran; D Ketting; T E Beckeringh; D Leupold; S K Wadman
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  Mild form of methylmalonic aciduria misdiagnosed as propionic acidaemia during a ketotic crisis.

Authors:  I T de Almeida; M Duran; M F Silva; R Portela; A Cabral; T Tasso; F Eusébio; C Silveira
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

Review 3.  The biotin-dependent carboxylase deficiencies.

Authors:  B Wolf; G L Feldman
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025

4.  Studies on cultured fibroblasts from patients with defects of biotin-dependent carboxylation.

Authors:  K Bartlett; H Ng; G Dale; A Green; J V Leonard
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

Review 5.  Enzyme studies in biotin-responsive disorders.

Authors:  K Bartlett; H K Ghneim; H J Stirk; H Wastell
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

6.  Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients.

Authors:  W Lehnert; W Sperl; T Suormala; E R Baumgartner
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

7.  Screening for organic acidurias and amino acidopathies in newborns and children.

Authors:  R A Chalmers; P Purkiss; R W Watts; A M Lawson
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

8.  Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency.

Authors:  J A DelValle; B Merinero; A Jiménez; M J García; M Ugarte; F Omeñaca; G Neustadt; J Quero
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

9.  Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels.

Authors:  H Przyrembel; H J Bremer; M Duran; L Bruinvis; D Ketting; S K Wadman; R Baumgartner; U Irle; C Bachmann
Journal:  Eur J Pediatr       Date:  1979-01-18       Impact factor: 3.183

10.  Propionic acidaemia presenting with pancytopaenia in infancy.

Authors:  L Sweetman; W L Nyhan; J Cravens; Y Zomer; D C Plunket
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982
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