Literature DB >> 6790857

Hypermethioninaemia and 3-hydroxyisobutyric aciduria in an apparently healthy baby.

P J Congdon, D Haigh, R Smith, A Green, R J Pollitt.   

Abstract

An apparently healthy baby with persistent hypermethioninaemia excretes increased amounts of 3-hydroxyisobutyrate, 3-hydroxypropionate, beta-aminoisobutyrate and beta-alanine. A defect in the oxidation of methylmalonic and malonic semialdehydes is proposed but the cause of the hypermethioninaemia is obscure.

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Year:  1981        PMID： 6790857     DOI： 10.1007/BF02263600

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


  2 in total

1.  The determination of beta-aminoisobutyric acid in human serum by ion-exchange chromatography.

Authors:  E Solem; D P Agarwal; H W Goedde
Journal:  Clin Chim Acta       Date:  1975-03-10       Impact factor: 3.786

2.  [13C]Valine metabolism in methylmalonicacidemia using nuclear magnetic resonance: propinonate as an obligate intermediate.

Authors:  K Tanaka; I M Armitage; H S Ramsdell; Y E Hsia; S R Lipsky; L E Rosenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1975-09       Impact factor: 11.205
  2 in total
  4 in total

1.  3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.

Authors:  Jörn Oliver Sass; Melanie Walter; Julian P H Shield; Andrea M Atherton; Uttam Garg; David Scott; C Geoffrey Woods; Laurie D Smith
Journal:  J Inherit Metab Dis       Date:  2011-08-24       Impact factor: 4.982

2.  Biochemical and structural studies of uncharacterized protein PA0743 from Pseudomonas aeruginosa revealed NAD+-dependent L-serine dehydrogenase.

Authors:  Anatoli Tchigvintsev; Alexander Singer; Greg Brown; Robert Flick; Elena Evdokimova; Kemin Tan; Claudio F Gonzalez; Alexei Savchenko; Alexander F Yakunin
Journal:  J Biol Chem       Date:  2011-11-28       Impact factor: 5.157

3.  Isolated persistent hypermethioninemia.

Authors:  S H Mudd; H L Levy; A Tangerman; C Boujet; N Buist; A Davidson-Mundt; L Hudgins; K Oyanagi; M Nagao; W G Wilson
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

4.  Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes.

Authors:  R J Pollitt; A Green; R Smith
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982
  4 in total

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