Literature DB >> 7609453

Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: an inborn error of beta-alanine, L-valine and L-alloisoleucine metabolism?

K M Gibson1, C F Lee, M J Bennett, B Holmes, W L Nyhan.   

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Year:  1993        PMID： 7609453     DOI： 10.1007/BF00711682

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


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  7 in total

1.  3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism.

Authors:  F J Ko; W L Nyhan; J Wolff; B Barshop; L Sweetman
Journal:  Pediatr Res       Date:  1991-10       Impact factor: 3.756

2.  Methylmalonic semialdehyde dehydrogenase deficiency: demonstration of defective valine and beta-alanine metabolism and reduced malonic semialdehyde dehydrogenase activity in cultured fibroblasts.

Authors:  R G Gray; R J Pollitt; J Webley
Journal:  Biochem Med Metab Biol       Date:  1987-08

3.  Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria.

Authors:  D Chitayat; K Meagher-Villemure; O A Mamer; A O'Gorman; D I Hoar; K Silver; C R Scriver
Journal:  J Pediatr       Date:  1992-07       Impact factor: 4.406

4.  Purification and characterization of methylmalonate-semialdehyde dehydrogenase from rat liver. Identity to malonate-semialdehyde dehydrogenase.

Authors:  G W Goodwin; P M Rougraff; E J Davis; R A Harris
Journal:  J Biol Chem       Date:  1989-09-05       Impact factor: 5.157

5.  3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases.

Authors:  K M Gibson; C F Lee; V Kamali; K Johnston; A L Beaudet; W J Craigen; B R Powell; R Schwartz; M Y Tsai; M Tuchman
Journal:  Clin Chem       Date:  1990-02       Impact factor: 8.327

6.  beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations.

Authors:  G K Brown; S M Hunt; R Scholem; K Fowler; A Grimes; J F Mercer; R M Truscott; R G Cotton; J G Rogers; D M Danks
Journal:  Pediatrics       Date:  1982-10       Impact factor: 7.124

7.  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
  7 in total
  7 in total

1.  Mammalian methylmalonate-semialdehyde dehydrogenase.

Authors:  N Y Kedishvili; G W Goodwin; K M Popov; R A Harris
Journal:  Methods Enzymol       Date:  2000       Impact factor: 1.600

2.  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

3.  3-hydroxyisobutyric aciduria with a mild clinical course.

Authors:  O Boulat; N Benador; E Girardin; C Bachmann
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

4.  Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.

Authors:  K L Chambliss; R G Gray; G Rylance; R J Pollitt; K M Gibson
Journal:  J Inherit Metab Dis       Date:  2000-07       Impact factor: 4.982

5.  Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway.

Authors:  Ronald J A Wanders; Marinus Duran; Ference J Loupatty
Journal:  J Inherit Metab Dis       Date:  2010-11-23       Impact factor: 4.982

6.  Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.

Authors:  Julien L Marcadier; Amanda M Smith; Daniela Pohl; Jeremy Schwartzentruber; Osama Y Al-Dirbashi; Jacek Majewski; Sacha Ferdinandusse; Ronald J A Wanders; Dennis E Bulman; Kym M Boycott; Pranesh Chakraborty; Michael T Geraghty
Journal:  Orphanet J Rare Dis       Date:  2013-07-09       Impact factor: 4.123

7.  Disorders of branched chain amino acid metabolism.

Authors:  I Manoli; C P Venditti
Journal:  Transl Sci Rare Dis       Date:  2016-11-07
  7 in total

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