Literature DB >> 947633

3-Hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria.

S J Wysocki, S P Wilkinson, R Hähnel, C Y Wong, P K Panegyres.   

Abstract

1. A baby with severe metabolic acidosis was found to excrete abnormal amounts of 3-methylcrotonic acid, 3-methylglutaconic acid and 3-hydroxy-3-methylglutaric acid in urine. 2. Several other abnormal constitutents appear to be products of side-reactions and include 3-hydroxy-3-methylbutyric acid and 3-methylglutaric acid. 3. The profile of acids in urine indicates a blockage in the sixth step of leucine catabolism, the cleavage of 3-hydroxy-3-methylglutaryl-CoA to acetoacetic acid and acetyl-CoA.

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Year:  1976        PMID： 947633     DOI： 10.1016/0009-8981(76)90353-3

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


  10 in total

1.  3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review.

Authors:  S J Wysocki; R Hähnel
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction.

Authors:  M Dasouki; D Buchanan; N Mercer; K M Gibson; J Thoene
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

3.  Clinical and biochemical observations on a child with a deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase.

Authors:  A Ketel; J L Ket; R B Schutgens; M Duran; S K Wadman
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

Review 4.  3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.

Authors:  K M Gibson; J Breuer; W L Nyhan
Journal:  Eur J Pediatr       Date:  1988-12       Impact factor: 3.183

5.  Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduria.

Authors:  Mariana Dos Santos Mello; Graziela Schmitt Ribas; Carlos Alberto Yasin Wayhs; Tatiane Hammerschmidt; Gilian Batista Balbueno Guerreiro; Jéssica Lamberty Favenzani; Ângela Sitta; Daniella de Moura Coelho; Moacir Wajner; Carmen Regla Vargas
Journal:  Mol Cell Biochem       Date:  2015-01-04       Impact factor: 3.396

6.  Dizygotic twins with 3-hydroxy-3-methylglutaric aciduria; unusual presentation, family studies and dietary management.

Authors:  T E Stacey; C de Sousa; B M Tracey; A Whitelaw; J Mistry; P Timbrell; R A Chalmers
Journal:  Eur J Pediatr       Date:  1985-07       Impact factor: 3.183

7.  CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase.

Authors:  G Lisson; D Leupold; D Bechinger; C Wallesch
Journal:  Neuroradiology       Date:  1981       Impact factor: 2.804

8.  Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts.

Authors:  O Sovik; L Sweetman; K M Gibson; W L Nyhan
Journal:  Am J Hum Genet       Date:  1984-07       Impact factor: 11.025

9.  Molecular basis of 3-hydroxy-3-methylglutaric aciduria.

Authors:  J Pie; N Casals; B Puisac; F G Hegardt
Journal:  J Physiol Biochem       Date:  2003-12       Impact factor: 4.158

Review 10.  Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes.

Authors:  Ya-Wen Lu; Steven M Claypool
Journal:  Front Genet       Date:  2015-02-03       Impact factor: 4.599
  10 in total

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