Literature DB >> 3939533

Riboflavin-responsive ethylmalonic-adipic aciduria.

A Green, T G Marshall, M J Bennett, R G Gray, R J Pollitt.   

Abstract

A patient presenting with a condition resembling Reye's syndrome was found to have a urinary organic acid excretion pattern similar to those previously described in a single patient with ethylmalonic-adipic aciduria. The present patient responded clinically to riboflavin supplementation and his fibroblasts, when cultured in riboflavin-depleted medium, showed an abnormal reduction in the rate of butyrate oxidation.

Entities:  

Mesh：

Substances：

Year:  1985        PMID： 3939533     DOI： 10.1007/bf01801667

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


  14 in total

1.  Riboflavin and rat hepatic cell structure and function. Mitochondrial oxidative metabolism in deficiency states.

Authors:  C Hoppel; J P DiMarco; B Tandler
Journal:  J Biol Chem       Date:  1979-05-25       Impact factor: 5.157

2.  Diagnosis of organic acidemias by gas chromatography--mass spectrometry.

Authors:  S I Goodman; S P Markey
Journal:  Lab Res Methods Biol Med       Date:  1981

3.  C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects.

Authors:  N Gregersen; H Wintzensen; S K Christensen; M F Christensen; N J Brandt; K Rasmussen
Journal:  Pediatr Res       Date:  1982-10       Impact factor: 3.756

4.  In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase.

Authors:  S Kølvraa; N Gregersen; E Christensen; N Hobolth
Journal:  Clin Chim Acta       Date:  1982-11-24       Impact factor: 3.786

5.  Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency).

Authors:  S I Goodman; F E Frerman
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

6.  Riboflavin-responsive lipid myopathy and carnitine deficiency.

Authors:  J E Carroll; J B Shumate; M H Brooke; J M Hagberg
Journal:  Neurology       Date:  1981-12       Impact factor: 9.910

7.  Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother. Study of a kindred with seven deaths in infancy: Value of riboflavin therapy in preventing this syndrome.

Authors:  J P Harpey; C Charpentier; S I Goodman; Y Darbois; G Lefèbvre; J Sebbah
Journal:  J Pediatr       Date:  1983-09       Impact factor: 4.406

8.  Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation.

Authors:  J M Saudubray; F X Coudé; F Demaugre; C Johnson; K M Gibson; W L Nyhan
Journal:  Pediatr Res       Date:  1982-10       Impact factor: 3.756

9.  The urinary excretion of ethylmalonic acid: what level requires further attention?

Authors:  M Duran; F J Walther; L Bruinvis; S K Wadman
Journal:  Biochem Med       Date:  1983-04

10.  Glutaric aciduria type II: biochemical investigation and treatment of a child diagnosed prenatally.

Authors:  M J Bennett; D A Curnock; P C Engel; L Shaw; R G Gray; D Hull; A D Patrick; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982
View more
  8 in total

1.  A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts.

Authors:  N J Manning; S E Olpin; R J Pollitt; J Webley
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Inherited disorders of straight chain fatty acid oxidation.

Authors:  R J Pollitt
Journal:  Arch Dis Child       Date:  1987-01       Impact factor: 3.791

3.  The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect.

Authors:  M J Bennett; R G Gray; D M Isherwood; N Murphy; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

Review 4.  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

Review 5.  Disorders of mitochondrial beta-oxidation: prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death.

Authors:  R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

6.  Possible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria).

Authors:  A Green; M A Preece; C de Sousa; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

7.  The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.

Authors:  B A Amendt; W J Rhead
Journal:  J Clin Invest       Date:  1986-07       Impact factor: 14.808

Review 8.  Riboflavin-responsive defects of beta-oxidation.

Authors:  N Gregersen
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.