PMID- 10479479
OWN - NLM
STAT- MEDLINE
DCOM- 19991019
LR  - 20220408
IS  - 1096-7192 (Print)
IS  - 1096-7192 (Linking)
VI  - 68
IP  - 1
DP  - 1999 Sep
TI  - Trimethylaminuria is caused by mutations of the FMO3 gene in a North American
      cohort.
PG  - 24-31
AB  - Trimethylaminuria (TMAuria) (McKusick 602079) first described in 1970 is an
      autosomal recessive condition caused by a partial or total incapacity to catalyze
      the N-oxygenation of the odorous compound trimethylamine (TMA). The result is a
      severe body odor and associated psychosocial conditions. This inborn error of
      metabolism, previously thought to be rare, is now being increasingly detected in 
      severe and milder presentations. Mutations of a phase 1 detoxicating gene,
      flavin-containing monooxygenase 3 (FMO3), have been shown to cause TMAuria.
      Herein we describe a cohort of individuals ascertained in North America with
      severe TMAuria, defined by a reduction of TMA oxidation below 50% of normal with 
      genotype-phenotype correlations. We detected four new FMO3 mutations; two were
      missense (A52T and R387L), one was nonsense (E314X). The fourth allele is
      apparently composed of two relatively common polymorphisms (K158-G308) found in
      the general population. On the basis of this study we conclude that one common
      mutation and an increasing number of private mutations in individuals of
      different ethnic origins cause TMAuria in this cohort.
CI  - Copyright 1999 Academic Press.
FAU - Akerman, B R
AU  - Akerman BR
AD  - Montreal Children's Hospital, Montreal, Quebec, Canada.
FAU - Lemass, H
AU  - Lemass H
FAU - Chow, L M
AU  - Chow LM
FAU - Lambert, D M
AU  - Lambert DM
FAU - Greenberg, C
AU  - Greenberg C
FAU - Bibeau, C
AU  - Bibeau C
FAU - Mamer, O A
AU  - Mamer OA
FAU - Treacy, E P
AU  - Treacy EP
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Mol Genet Metab
JT  - Molecular genetics and metabolism
JID - 9805456
RN  - 0 (Methylamines)
RN  - 9007-49-2 (DNA)
RN  - EC 1.13.- (Oxygenases)
RN  - EC 1.14.13.8 (dimethylaniline monooxygenase (N-oxide forming))
RN  - LHH7G8O305 (trimethylamine)
SB  - IM
MH  - Adult
MH  - Alleles
MH  - Amino Acid Substitution
MH  - Child
MH  - Child, Preschool
MH  - Cohort Studies
MH  - DNA/chemistry/genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Metabolism, Inborn Errors/*genetics/urine
MH  - Methylamines/*urine
MH  - Middle Aged
MH  - Mutation
MH  - Mutation, Missense
MH  - North America
MH  - Oxygenases/*genetics
MH  - Phenotype
MH  - Point Mutation
MH  - Polymorphism, Genetic
EDAT- 1999/09/10 00:00
MHDA- 1999/09/10 00:01
CRDT- 1999/09/10 00:00
PHST- 1999/09/10 00:00 [pubmed]
PHST- 1999/09/10 00:01 [medline]
PHST- 1999/09/10 00:00 [entrez]
AID - 10.1006/mgme.1999.2885 [doi]
AID - S1096-7192(99)92885-8 [pii]
PST - ppublish
SO  - Mol Genet Metab. 1999 Sep;68(1):24-31. doi: 10.1006/mgme.1999.2885.