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GENATLAS PHENOTYPE
last update : 24-01-2009
Symbol TMA
Location 1q23-q24
Name trimethylaminuria
Other name(s) fish odor syndrome
Corresponding gene FMO3 , FMO4
Other symbol(s) TMAU
Main clinical features
  • abnormal presence of large amounts of volatile and malodorous trimethylamine within the body, excreted in the urine, sweat (ichthyohidrosis), and breath, which take on the offensive odor of decaying fish
  • pulmonary infections beginning in the neonatal period, splenomegaly, anemia, and neutropenia
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/organic acid
    Type disease
    Remark(s) enzyme dysfunction can result from kinetic incompetencies as well as impaired assembly of holoprotein