Literature DB >> 9568924

3-Hydroxyisobutyric aciduria in two brothers.

M Sasaki1, M Kimura, K Sugai, T Hashimoto, S Yamaguchi.   

Abstract

Two Japanese brothers with 3-hydroxyisobutyric aciduria (3HiB-uria) are studied. The elder brother died of a ketoacidotic episode at the age of 4 years; the younger brother also manifested repeated episodes of ketoacidosis after 1 year of age. He is diagnosed as having 3HiB-uria by gas chromatography/mass spectometry analysis, using the unique fragment ions of 3HiB. Magnetic resonance imaging reveals focal white matter abnormalities. Protein restriction is effective for preventing the ketoacidotic episodes, although carnitine therapy seems less effective.

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Year:  1998        PMID： 9568924     DOI： 10.1016/s0887-8994(97)00161-6

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


  3 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.  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

3.  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
  3 in total

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