Fish Odor Syndrome (Trimethylaminuria) 747f53h 747f53h 747f53h 747f53h
General: Metabolic syndrome characterized by a strong body odor of rotting fish; trimethylamine levels elevated; it appears that the enzyme flavin-containing monooxygenase is defective in this disorder; possibly autosomal recessive pattern of inheritance.
Ocular: Hypertelorism, cortical blindness.
Clinical: Hydrocephalus; mental retardation; unusual facies; short stature; skeletal abnormalities; cryptorchidism; hyperextensible skin.
Chen H, Aiello F. Trimethylaminuria in a girl with Prader-Willi syndrome and del(15)(q11q13). Am J Med Genet 1993; 45:335-339.
Humbert JR, et al. The fish odor syndrome. Lancet 1970; 2:770-771.
Shelley ED, Shelley WB. The fish odor syndrome. JAMA 1984; 251:253-256.
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