Literature DB >> 720359

3-methylglutaconic aciduria: report on a sibship with infantile progressive encephalopathy.

J Greter, B Hagberg, G Steen, U Söderhjelm.   

Abstract

Choreoathetosis, spastic parapareses, dementia and optic atrophy were the main clinical features in a sibship with progressive encephalopathy of late onset. The urine contained constantly elevated amounts of 3-methylglutaric and 3-methylglutaconic acids. The identity of these metabolites was confirmed by synthesis and mass spectrometry. On leucine loading, the excretion of the metabolites was elevated.

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Year:  1978        PMID： 720359     DOI： 10.1007/bf00441354

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  11 in total

1.  Carboxylation of beta-methylcrotonyl coenzyme A by a purified enzyme from chicken liver.

Authors:  A DEL CAMPILLO-CAMPBELL; E E DEKKER; M J COON
Journal:  Biochim Biophys Acta       Date:  1959-01

2.  3-Hydroxy-3-methylglutaric aciduria: 3-hydroxy-3-methylglutaryl-coenzyme A lyase levels in leucocytes.

Authors:  S J Wysocki; R Hähnel
Journal:  Clin Chim Acta       Date:  1976-12-01       Impact factor: 3.786

3.  The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria.

Authors:  K F Faull; P D Bolton; B Halpern; J Hammond; D M Danks
Journal:  Clin Chim Acta       Date:  1976-12       Impact factor: 3.786

4.  Letter: Patient with defect in leucine metabolism.

Authors:  K Faull; P Bolton; B Halpern; J Hammond; D M Danks; R Hähnel; S P Wilkinson; S J Wysocki; P L Masters
Journal:  N Engl J Med       Date:  1976-04-29       Impact factor: 91.245

5.  Neonatal death associated with isovalericacidaemia.

Authors:  C G Newman; B D Wilson; P Callaghan; L Young
Journal:  Lancet       Date:  1967-08-26       Impact factor: 79.321

6.  A method for the determination of volatile organic acids in aqueous solutions and urine, and the results obtained in propionic acidaemia, beta-methylcrotonylglycinuria and methylmalonic aciduria.

Authors:  R A Chalmers; S Bickle; R W Watts
Journal:  Clin Chim Acta       Date:  1974-03       Impact factor: 3.786

7.  Organic acids in urine from human newborns.

Authors:  L Björkman; C McLean; G Steen
Journal:  Clin Chem       Date:  1976-01       Impact factor: 8.327

8.  Organic aciduria. Treatable cause of floppy infant syndrome.

Authors:  B R Keeton
Journal:  Arch Dis Child       Date:  1976-08       Impact factor: 3.791

9.  Intermittently progressive dyskinetic syndrome in glutaric aciduria.

Authors:  M Kyllerman; G Steen
Journal:  Neuropadiatrie       Date:  1977-11

Review 10.  Profiling of human body fluids in healthy and diseased states using gas chromatography and mass spectrometry, with special reference to organic acids.

Authors:  E Jellum
Journal:  J Chromatogr       Date:  1977-09-01
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  6 in total

1.  3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4').

Authors:  D Chitayat; J Chemke; K M Gibson; O A Mamer; J B Kronick; J J McGill; B Rosenblatt; L Sweetman; C R Scriver
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduria.

Authors:  E A Haan; R D Scholem; J J Pitt; J E Wraith; G K Brown
Journal:  Eur J Pediatr       Date:  1987-09       Impact factor: 3.183

3.  Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria.

Authors:  K Narisawa; K M Gibson; L Sweetman; W L Nyhan; M Duran; S K Wadman
Journal:  J Clin Invest       Date:  1986-04       Impact factor: 14.808

4.  3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal.

Authors:  K M Gibson; W L Nyhan; L Sweetman; K Narisawa; W Lehnert; P Divry; B H Robinson; K S Roth; F A Beemer; F J van Sprang
Journal:  Eur J Pediatr       Date:  1988-10       Impact factor: 3.183

Review 5.  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

6.  3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.

Authors:  W Lehnert; J Scharf; U Wendel
Journal:  Eur J Pediatr       Date:  1985-03       Impact factor: 3.183
  6 in total

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