Literature DB >> 719902

Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts.

M Duran, D Ketting, S K Wadman, C Jakobs, R B Schutgens, H A Veder.   

Abstract

The organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency is described. In addition to 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids, substantial amounts of glutaric and adipic acids were repeatedly observed. 3-Methylcrotonic acid and possibly one of its isomers was found to be formed artificially from 3-methylglutaconic acid.

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Year:  1978        PMID： 719902     DOI： 10.1016/0009-8981(78)90521-1

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.  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 3.  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

Review 4.  An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.

Authors:  S I Goodman
Journal:  Am J Hum Genet       Date:  1980-11       Impact factor: 11.025

Review 5.  3-Methylglutaric acid in energy metabolism.

Authors:  Dylan E Jones; Leanne Perez; Robert O Ryan
Journal:  Clin Chim Acta       Date:  2019-11-12       Impact factor: 3.786

6.  Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease).

Authors:  B Fowler; R B Schutgens; D S Rosenblatt; G P Smit; J Lindemans
Journal:  J Inherit Metab Dis       Date:  1997-11       Impact factor: 4.982

7.  Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.

Authors:  C Jakobs; L Sweetman; W L Nyhan; S Packman
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

8.  3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis.

Authors:  D Leupold; M Bojasch; C Jakobs
Journal:  Eur J Pediatr       Date:  1982-02       Impact factor: 3.183

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.  Hypoglycaemia Metabolic Gene Panel Testing.

Authors:  Arianna Maiorana; Francesca Romana Lepri; Antonio Novelli; Carlo Dionisi-Vici
Journal:  Front Endocrinol (Lausanne)       Date:  2022-03-29       Impact factor: 5.555
  10 in total

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