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GENATLAS PHENOTYPE
last update : 30-06-2010
Symbol MMAD
Location 2q23;2
Name methylmalonic aciduria Cbld type
Other name(s) methylmalonic aciduria and homocystinuria, cblD type
Corresponding gene MMADHC
Other symbol(s) MMACHD
Main clinical features
  • combined homocystinuria and methylmalonic aciduria
  • developmental delay and neurologic abnormalities
  • urinary methylmalonic acid and methylcitrate were elevated, whereas homocysteine was normal
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Remark(s)