Fish odour syndrome: Verification of carrier detection test

Publisher Website
Google Scholar
Abstract
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 theN‐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;pN‐oxidation capacity which fell within the range found among the obligate heterozygotes.