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  • 2-Methyl-3-hydroxybutyric acid  (1)
  • 3-Methylcrotonyl-CoA carboxylase  (1)
  • 1
    Electronic Resource
    Electronic Resource
    3-Ketothiolase deficiency (1986)
    Springer
    European journal of pediatrics 144 (1986), S. 586-589 
    Details
    ISSN: 1432-1076
    Keywords: 3-Ketothiolase ; 2-Methyl-3-hydroxybutyric acid ; Tiglyglycine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two patients have been studied in whom the activity of the short chain-length-specific mitochondrial 3-ketothiolase was found to be deficient. Use of a range of 3-ketoacyl-CoA substrates showed that the other 3-ketothiolase isoenzymes were normal in each case. Both patients had episodic ketosis and metabolic acidosis. One patient had substantial evidence of damage to the central nervous system and two siblings who had died of the disease. The organic aciduria was characterized by the excretion of 2-methyl-3-hydroxybutyric acid and tiglyglycine. In one patient the organic aciduria was very subtle and was masked during the presence of ketosis, but it was clarified by an isoleucine load after recovery from ketosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00496042
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs (1982)
    Springer
    European journal of pediatrics 138 (1982), S. 351-354 
    Details
    ISSN: 1432-1076
    Keywords: 3-Methylcrotonyl-CoA carboxylase ; 3-Hydroxyisovaleric acid ; 3-Methylcrotonylglycine ; Biotin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two Vietnamese siblings with an isolated deficiency of 3-methylcrotonyl coenzyme A carboxylase in leucocytes and culture fibroblasts are described. Both children excreted massive amounts of 3-methylcrotonylglycine and 3-hydroxyisovaleric acid. There was no in vivo or in vitro biochemical response to biotin. Apart from an attack of vomitting leading to subcoma in the elder sib four weeks after arrival in the Netherlands, the children were in good health. There were no signs of delayed mental development.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442517
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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