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Trimethylaminuria

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Overview

Type of Disease: Rare Condition or Disease Genetic, autosomal recessive

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Primary Trimethylaminuria (TMAU)
Added By: MEBO RESEARCH
Publish Date: Jun 10, 2019
Category: General
Language(s): English
TMAU diagnosis is established in a proband: Excretes in urine >10% of total trimethylamine (TMA) as the free amine; Has biallelic (homozygous or compound heterozygous), known loss-of-function pathogenic variants in FMO3 on molecular genetic testing.