Cited by 44Metabolism and Genetic DisordersAmino Acid Enzymes and MetabolismPharmacogenetics and Drug Metabolism

Fish odour syndrome: Verification of carrier detection test

Zhang, A. Q., Mitchell, S., Smith, R.·1995·Journal of Inherited Metabolic Disease

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 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.

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Crossref · 10.1007/bf02436755

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Authors
Zhang, A. Q., Mitchell, S., & Smith, R.
Affiliations
St Mary's Hospital (GB)
Venue
Journal of Inherited Metabolic Disease
Publisher
Wiley
Published
1995-05-26
Volume
18
Issue
6
Pages
669-674
ISSN
  • 0141-8955 (ISSN-L)
  • 1573-2665
OpenAlex
W1999073951
Cited by
44
References
13
Citations by year
2025: 2 · 2023: 1 · 2021: 1 · 2020: 3 · 2019: 3 · 2018: 1 · 2017: 2 · 2016: 2 · 2015: 1 · 2014: 1 · 2013: 2 · 2012: 1
FWCI
1.12
Type
journal article
Language
en
Open access
closed
Locations
  • Journal of Inherited Metabolic Disease (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
  • Life Sciences › Pharmacology, Toxicology and Pharmaceutics › Pharmacology › Pharmacogenetics and Drug Metabolism
Keywords
trimethylamine N-oxide, trimethylamine, oral challenge test, heterozygote detection, carrier detection
MeSH terms
Adult, Female, Genetic Carrier Screening, Humans, Male, Metabolism, Inborn Errors, Methylamines, Odorants, Syndrome

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