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Related Concept Videos

Urine Studies I: Urinalysis01:29

Urine Studies I: Urinalysis

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Urinalysis is a widely used diagnostic test that analyzes urine's physical, chemical, and microscopic characteristics. Healthcare providers use it to detect and monitor various health conditions, including renal disease, urinary tract infections (UTIs), diabetes, and metabolic or systemic disorders.Components of UrinalysisUrinalysis consists of three primary components: physical, chemical, and microscopic examination. Each provides unique insights into the urine sample and, by extension, the...
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Urinary Tract Calculi III: Medical Management01:30

Urinary Tract Calculi III: Medical Management

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The diagnosis of renal calculi involves several imaging techniques, including non-contrast CT scans and ultrasound. These methods help visualize kidney stones, assess their size and location, and detect possible obstructions. Additionally, Measuring urine pH is useful for diagnosing specific stone types, such as struvite (alkaline pH) and uric acid stones (acidic pH). Cystine stones are primarily linked to cystinuria, a genetic condition. A urinalysis helps detect blood in the urine (hematuria)...
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Urea Cycle01:23

Urea Cycle

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The urea cycle describes how liver cells convert ammonia to urea. Ammonia is a toxic waste product of protein catabolism. Land animals must convert ammonia into the less toxic urea which can be safely eliminated by the kidneys through urine. Marine animals excrete ammonia directly, and the surrounding water dilutes the ammonia to safe levels.
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Urinary Tract Infection III: Diagnostic Studies and Interprofessional Care01:30

Urinary Tract Infection III: Diagnostic Studies and Interprofessional Care

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A healthcare provider can diagnose a urinary tract infection (UTI) through several methods:Medical History and Symptoms: The provider will take a detailed medical history and ask about symptoms such as frequent urination, burning sensation during urination, and lower abdominal pain.Urinalysis: A clean-catch urine sample is collected in a sterile container and tested for the presence of bacteria, white blood cells (leukocytes), nitrites, blood, and protein. The presence of leukocytes and...
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Physical Properties of Amines01:26

Physical Properties of Amines

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Amines with low molecular weight are usually gaseous at room temperature, while those with high molecular weight are liquid or solids in nature. Usually, low molecular weight amines have a rotten fish-like smell. Diamines typically have a pungent smell. For instance, cadaverine and putrescine, depicted in Figure 1, are two molecules responsible for decaying tissue.
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Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Related Experiment Video

Updated: Dec 20, 2025

Author Spotlight: An Improved Technique for Trimethylamine Detection in Animal-Derived Medicine by Headspace Gas Chromatography-Tandem Quadrupole Mass Spectrometry
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Author Spotlight: An Improved Technique for Trimethylamine Detection in Animal-Derived Medicine by Headspace Gas Chromatography-Tandem Quadrupole Mass Spectrometry

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[Trimethylaminuria : a perhaps not so uncommon case].

Damien Pedrazzoli1, Ariane Paoloni-Giacobino1

  • 1Service de médecine génétique, HUG, 1211 Genève 14.

Revue Medicale Suisse
|May 29, 2020
PubMed
Summary

Trimethylaminuria, a rare metabolic disorder, causes a fishy body odor. This case highlights its significant psychiatric and social impacts, with genetics playing a key diagnostic role and treatment focusing on palliative measures.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Trimethylaminuria is a rare metabolic disorder.
  • It is characterized by the accumulation and excretion of trimethylamine (TMA).
  • TMA is responsible for a strong, unpleasant fishy body odor.

Observation:

  • A patient presented with complaints of distressing, nauseating body odors.
  • The patient's symptoms led to a diagnosis of trimethylaminuria.
  • The condition was not widely known by the patient or initially by the medical team.

Findings:

  • Genetic factors are crucial in diagnosing trimethylaminuria.
  • The body odor associated with trimethylaminuria can have severe psychological and social consequences.
  • Diagnosis involves identifying elevated trimethylamine levels.

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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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Related Experiment Videos

Last Updated: Dec 20, 2025

Author Spotlight: An Improved Technique for Trimethylamine Detection in Animal-Derived Medicine by Headspace Gas Chromatography-Tandem Quadrupole Mass Spectrometry
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Integration of Miniaturized Solid Phase Extraction and LC-MS/MS Detection of 3-Nitrotyrosine in Human Urine for Clinical Applications
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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

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Implications:

  • Increased awareness of trimethylaminuria is needed among healthcare professionals.
  • Management strategies focus on dietary modifications and hygiene, offering palliative care.
  • Further research into genetic counseling and novel therapeutic approaches is warranted.