Branched-Chain Organic Acidurias

  • H. Ogier de Baulny
  • U. Wendel
  • J.-M. Saudubray


Branched chain organic acidurias are a group of disorders that result from an inherited abnormality of specific enzymes mainly involving the catabolism of branched-chain amino acids (BCAA). Collectively, maple syrup urine disease (MSUD), isovaleric aciduria (IVA). 3-methylcrotonylglycinuria (3-MCG), propionic aciduria (PA), and methylmalonic aciduria (MMA) represent the most commonly encountered abnormal organic acidurias. Beside these disorders, 3-methylglutaconic aciduria and 3-hydroxyisobutyric aciduria due to leucine and valine catabolism defects, respectively, are rare diseases without any effective treatment (Fig. 1).


Maple Syrup Urine Disease Amino Acid Mixture Maple Syrup Urine Disease Organic Aciduria Methylmalonic Aciduria 
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Copyright information

© Springer-Verlag Berlin Heidelberg 1995

Authors and Affiliations

  • H. Ogier de Baulny
  • U. Wendel
  • J.-M. Saudubray

There are no affiliations available

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