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Fish odour syndrome: Verification of carrier detection test
Author(s) -
Zhang A. Q.,
Mitchell S.,
Smith R.
Publication year - 1995
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02436755
Subject(s) - fish <actinopterygii> , test (biology) , medicine , biology , fishery , ecology
Summary An oral trimethylamine challenge test has been used to confirm the heterozygous status of patients with ‘fish‐odour syndrome’. By measuring the percentage of total urinary trimethylamine‐related material excreted as the N ‐oxide, no discrimination could be made between obligate heterozygotes (parents of ‘fish‐odour syndrome’ patients) ( n =15; 96±2%, range 92–98%) and control individuals (parents of unaffected children) ( n =16; 96±2%, range 93–99%) on a normal diet. However, after ingesting a trimethylamine load (600 mg base) the obligate heterozygotes were clearly distinguishable (76±3%, range 71–79%) from controls (95±2%, range 91–99%) ( t ‐test; p <0.001). One of a hundred apparently normal volunteers who were subsequently challenged with trimethylamine had an N ‐oxidation capacity which fell within the range found among the obligate heterozygotes.