Literature DB >> 116077

Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia.

M Duran, L Bruinvis, D Ketting, S K Wadman.   

Abstract

Two patients with methylmalonic acidaemia due to methylmalonyl-CoA mutase deficiency were studied for several years. Both exhibited at least two attacks of severe ketoacidosis, during which they excreted, in addition to methylmalonic acid, a number of abnormal compounds: 3-hydroxypropionic acid, 2-methyl-3-hydroxybutyric, 3-hydroxy-n-valeric acid, 3-oxo-n-valeric acid, 2-methyl-3-oxobutyric acid, citraconic acid and N-tiglyglycine. These compounds represent partly intermediary metabolites from the isoleucine degradation pathway and partly secondary metabolites of propionyl-CoA and tiglyl-CoA.

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Year:  1978        PMID： 116077     DOI： 10.1007/bf01805683

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


  9 in total

1.  Accumulation of 3-hydroxyisobutyric acid, 2-methyl-3-hydroxybutyric acid and 3-hydroxyisovaleric acid in ketoacidosis.

Authors:  S Landaas
Journal:  Clin Chim Acta       Date:  1975-10-15       Impact factor: 3.786

2.  A simple method for the isolation and purification of total lipides from animal tissues.

Authors:  J FOLCH; M LEES; G H SLOANE STANLEY
Journal:  J Biol Chem       Date:  1957-05       Impact factor: 5.157

3.  Clinical conditions associated with urinary excretion of 2-hydroxybutyric acid.

Authors:  S Landaas; J E Pettersen
Journal:  Scand J Clin Lab Invest       Date:  1975-05       Impact factor: 1.713

4.  (2-Ethoxyethoxy)acetic acid: an unusual compound found in the gas chromatographic analysis of urinary organic acids.

Authors:  J P Kamerling; M Duran; L Bruinvis; D Ketting; S K Wadman; C J de Groot; F A Hommes
Journal:  Clin Chim Acta       Date:  1977-06-15       Impact factor: 3.786

5.  A defect in l-isoleucine metabolism associated with alpha-methyl-beta-hydroxybutyric and alpha-methylacetoacetic aciduria: quantitative in vivo and in vitro studies.

Authors:  D Gompertz; J M Saudubray; C Charpentier; K Bartlett; P A Goodey; G H Draffan
Journal:  Clin Chim Acta       Date:  1974-12-17       Impact factor: 3.786

6.  The occurrence of beta-hydroxy-n-valeric acid in a patient with propionic and methylmalonic acidemia.

Authors:  O Stokke; E Jellum; L Eldjarn; R Schnitler
Journal:  Clin Chim Acta       Date:  1973-05-30       Impact factor: 3.786

7.  Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.

Authors:  V G Oberholzer; B Levin; E A Burgess; W F Young
Journal:  Arch Dis Child       Date:  1967-10       Impact factor: 3.791

8.  The variability of metabolite excretion in propionicacidaemia.

Authors:  M Duran; D Gompertz; L Bruinvis; D Ketting; S K Wadman
Journal:  Clin Chim Acta       Date:  1978-01-02       Impact factor: 3.786

9.  Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency.

Authors:  L Sweetman; W Weyler; W L Nyhan; C de Céspedes; A R Loria; Y Estrada
Journal:  Biomed Mass Spectrom       Date:  1978-03
  9 in total
  4 in total

Review 1.  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

2.  Citraconate inhibits ACOD1 (IRG1) catalysis, reduces interferon responses and oxidative stress, and modulates inflammation and cell metabolism.

Authors:  W A M Elgaher; M Winterhoff; K Büssow; F Chen; F H Waqas; E Graner; Y Pires-Afonso; L Casares Perez; L de la Vega; N Sahini; L Czichon; W Zobl; T Zillinger; M Shehata; S Pleschka; H Bähre; C Falk; A Michelucci; S Schuchardt; W Blankenfeldt; A K H Hirsch; F Pessler
Journal:  Nat Metab       Date:  2022-06-02

3.  Establishment, Validation, and Initial Application of a Sensitive LC-MS/MS Assay for Quantification of the Naturally Occurring Isomers Itaconate, Mesaconate, and Citraconate.

Authors:  Moritz Winterhoff; Fangfang Chen; Nishika Sahini; Thomas Ebensen; Maike Kuhn; Volkhard Kaever; Heike Bähre; Frank Pessler
Journal:  Metabolites       Date:  2021-04-26

4.  Itaconate Isomers in Bread.

Authors:  Mona Gruenwald; Fangfang Chen; Heike Bähre; Frank Pessler
Journal:  Antioxidants (Basel)       Date:  2022-07-16
  4 in total

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