Article
A novel mutation in the flavin-containing monooxygenase 3 gene, FM03, that causes fish-odour syndrome: activity of the mutant enzyme assessed by proton NMR spectroscopy.
Pharmacogenetics - 1 Jul 2000
Murphy H C, Dolphin C T, Janmohamed A, Holmes H C, Michelakakis H, Shephard E A, Chalmers R A, Phillips I R, Iles R A
Abstract excerpt
We have previously shown that primary trimethylaminuria, or fish-odour syndrome, is caused by an inherited defect in the flavin-containing monooxygenase 3 (FMO3) catalysed N-oxidation of the dietary-derived malodorous amine, trimethylamine (TMA). We now report a novel causative mutation for the disorder identified in a young girl diagnosed by proton nuclear magnetic resonance (NMR) spectroscopy of her urine....
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