Transient trimethylaminuria in childhood

Area of Science:

• Metabolic disorders
• Genetics
• Biochemistry

Background:

• Trimethylaminuria, or fish-odour syndrome, is typically an inherited metabolic disorder.
• It results from deficient N-oxidation, leading to excessive trimethylamine excretion.
• This causes a characteristic fishy body odour.

Observation:

• Two unrelated, healthy children presented with transient trimethylaminuria.
• These children did not exhibit the typical N-oxidation deficiency.
• This identified a previously unrecognized form of the condition.

Findings:

• The study highlights that transient trimethylaminuria can occur without N-oxidation deficiency.
• Accurate diagnosis necessitates analyzing both trimethylamine and trimethylamine-N-oxide in urine.
• This expands the diagnostic criteria for fish-odour syndrome.

Implications:

• Transient trimethylaminuria may be more common than previously thought.
• Recognizing this condition is crucial for appropriate patient management.
• Further research is needed to identify the causes and ensure proper follow-up for affected individuals.