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GENATLAS PHENOTYPE
last update : 21/08/2006
Symbol MSUD1A
Location 19q13.2
Name maple syrup urine disease, classic form
Corresponding gene BCKDHA
Main clinical features
  • also including rare mild form
  • after a delay of five to seven days or later with breast feeding,
  • onset by poor feeding and lethargy followed by weight loss,increased/decreased tone, ketosis and maple sugar (burnt odor) of urine,
  • elevated branched chain aminoacids and ketoacids in the plasma
  • leading to death in the first months of life if untreated
  • Genetic determination
    Function/system disorder metabolism/aminoacids
    Type disease
    Gene product
    Name branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   under-expression less than a dozen of single mutations currently described
    frameshift deletion    
    Remark(s)