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GENATLAS PHENOTYPE
last update : 17-12-2013
Symbol MSUDMV
Location 4q22.1
Name maple syrup urine disease, mild variant
Corresponding gene PPM1K
Main clinical features
  • increased plasma levels of branched-chain amino acids (BCAA) apparent at birth
  • treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes; however, plasma levels of BCAA may remain elevated
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Remark(s)