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GENATLAS PHENOTYPE
last update : 16-10-2013
Symbol MMACHF
Location 6q13
Name methylmalonic aciduria and homocystinuria, cblF type
Corresponding gene LMBRD1
Other symbol(s) CBLF
Main clinical features
  • small for gestational age, poor feeding, failure to thrive, developmental delay and persistent stomatitis, minor facial abnormalities, including pegged teeth and bifid incisors
  • frequent macrocytic anemia, neutropenia, thrombocytopenia and pancytopenia, elevated homocysteine and methylmalonic acid concentrations in blood or urine samples; responsive to parenteral hydroxocobalamin therapy
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Remark(s)