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Trimethylaminuria.

E Spellacy, R W Watts, S K Goolamali

Journal of Inherited Metabolic Disease

|January 1, 1980

Summary

This summary is machine-generated.

A rare genetic disorder causes fish odor syndrome (trimethylaminuria) in a child due to excessive trimethylamine excretion. Dietary changes, avoiding fish and choline, resolved the symptoms, indicating a metabolic link.

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Area of Science:

Biochemistry
Genetics
Metabolic Disorders

Background:

Trimethylaminuria is a rare metabolic disorder characterized by the inability to break down trimethylamine.
This leads to the accumulation and excretion of trimethylamine, causing a distinct fish-like body odor.

Observation:

A 7-year-old girl presented with intermittent fish-like odor.
The odor was linked to the excretion of trimethylamine, triggered by choline intake and fish consumption.

Findings:

Dietary modifications, excluding eggs, liver, and certain fish, successfully eliminated the symptom.
The patient's father showed intermediate trimethylamine excretion after a choline load, suggesting a potential genetic link or carrier status.

Implications:

This case highlights the importance of dietary management in trimethylaminuria.
Understanding the genetic basis and metabolic pathways is crucial for diagnosing and managing this rare condition.