Branched-Chain Organic Acidurias

  • H. Ogier de Baulny
  • Jean-Marie Saudubray


Branched-chain organic acidurias are a group of disorders that result from an abnormality of specific enzymes involving the catabolism of branched-chain amino acids (BCAAs). Collectively, maple syrup urine disease (MSUD), isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) represent the most commonly encountered abnormal organic acidurias. They can present clinically as a severe neonatal onset form of metabolic distress, an acute, intermittent, late-onset form, or a chrönic progressive form presenting as hypotonia, failure to thrive, and developmental delay. 3-Methylcrotonyl glycinuria, 3-methylglutaconic (3-MGC) aciduria, 3-hydroxyisobutyric aciduria and malonic aciduria are other rare diseases involving leucine, isoleucine, and valine catabolism. All these disorders can be diagnosed by identifying acylcarnitines and other organic acid compounds in plasma and urine by gas chromatography-mass spectrometry (MS) or tandem MS-MS.


Maple Syrup Urine Disease Amino Acid Mixture Maple Syrup Urine Disease Organic Aciduria Methylmalonic Aciduria 
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© Springer-Verlag Berlin Heidelberg 2000

Authors and Affiliations

  • H. Ogier de Baulny
  • Jean-Marie Saudubray

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