Abstract
In a six-year-old girl with a history of recurrent pulmonary infections and a mild bleeding tendency, a strikingly fishy smell was detected in the sweat and urine. She resembled a Turner syndrome phenotypically and had splenomegaly. Chromosomes were normal. Hematocrit was 30–34%, WBC 3,150–9,000/cu mm, platelet count 150,000–250,000/cu mm. Red blood cell (RBC) survival studies showed a slightly decreased half-time due to splenic sequestration; RBC volume was normal, but plasma volume was increased (60 ml/k). RBC's showed increased resistance to filtration through a 3 μ pore filter; this finding suggested increased cell membrane rigidity. Bleeding time was prolonged, platelet aggregation to collagen and adhesiveness to glass beads was decreased. Leukocyte adhesiveness to glass was decreased in 16 of 23 tests performed; other tests of leukocyte function were normal. The patient's mother, sister, maternal grandmother and maternal uncle also showed decreased leukocyte adhesiveness, but no other defects. Examination of the patient's urine by gas chromatography demonstrated the presence of excessive trimethylamine (TMA). This substance, a metabolite of choline, has a characteristic odor of decaying fish. When an oral choline load was given to the patient, she excreted large amounts of TMA in her urine as compared to a normal control. In addition, oral loading doses of TMA produced the fishy smell in the patient but not in the controls. This patient represents a new clinical and metabolic syndrome in which a disorder of choline metabolism, possibly due to TMA oxidase deficiency, may explain the defective membrane function of platelets, neutrophils and RBC's, and the accumulation of trimethylamine.
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Humbert, J., Hammond, K., Hathaway, W. et al. The stale-fish syndrome: A new metabolic disorder associated with trimethyaminuria. Pediatr Res 5, 395 (1971). https://doi.org/10.1203/00006450-197108000-00099
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DOI: https://doi.org/10.1203/00006450-197108000-00099