Literature DB >> 455718

Dicarboxylic aciduria: the response to fasting.

R J Truscott, L Hick, C Pullin, B Halpern, B Wilcken, H Griffiths, M Silink, H Kilham, F Grunseit.   

Abstract

The urine of a child who presented with an episode of a disease resembling Reye's syndrome was found to contain large quantities of the dicarboxylic acids adipic and suberic acids, as well as the glycine conjugate of suberic acid, suberyl glycine. A variety of other dicarboxylic acids, both saturated and unsaturated, were also found in the urine at the time of the attack. It was found that the excretion of these unusual metabolites could be markedly increased by fasting for periods of greater than 10 h. These results indicate that the patient may have a defect in fatty acid oxidation which becomes clinically significant during periods of prolonged fasting.

Entities:  

Mesh:

Substances:

Year:  1979        PMID: 455718     DOI: 10.1016/0009-8981(79)90183-9

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


  9 in total

1.  Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.

Authors:  B Wilcken; K H Carpenter; J Hammond
Journal:  Arch Dis Child       Date:  1993-09       Impact factor: 3.791

Review 2.  The inborn errors of mitochondrial fatty acid oxidation.

Authors:  C Vianey-Liaud; P Divry; N Gregersen; M Mathieu
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

3.  A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome.

Authors:  J A Del Valle; M J Garcia; B Merinero; C Pérez-Cerdá; F Roman; A Jimenez; M Ugarte; M Martínez-Pardo; C Ludeña; C Camarero
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

4.  Gas chromatography--mass spectrometry (GC--MS) diagnosis of two cases of medium chain acyl-CoA dehydrogenase deficiency.

Authors:  P Divry; C Vianey-Liaud; J Cotte
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

5.  Fatty acyl-CoA dehydrogenase deficiency: enzyme measurement and studies on alternative metabolism.

Authors:  N Gregersen
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

6.  Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid.

Authors:  C Jakobs; L Sweetman; S K Wadman; M Duran; J M Saudubray; W L Nyhan
Journal:  Eur J Pediatr       Date:  1984-01       Impact factor: 3.183

7.  Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.

Authors:  B A Amendt; W J Rhead
Journal:  J Clin Invest       Date:  1985-09       Impact factor: 14.808

Review 8.  Medium chain acyl-CoA dehydrogenase deficiency.

Authors:  E H Touma; C Charpentier
Journal:  Arch Dis Child       Date:  1992-01       Impact factor: 3.791

9.  Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency.

Authors:  B Wilcken; J Hammond; M Silink
Journal:  Arch Dis Child       Date:  1994-05       Impact factor: 3.791

  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.