Trimethylaminuria (fish-odor syndrome): a case report

Area of Science:

• Metabolic disorders
• Human genetics
• Biochemistry

Background:

• Trimethylaminuria, also known as fish-odor syndrome, is a rare metabolic disorder.
• It is characterized by a distinct fishy body odor and results from mutations in the flavin-containing monooxygenase 3 (FMO3) gene.
• Psychosocial issues are common in affected individuals, necessitating a high index of suspicion in clinical practice.

Observation:

• A case study of a 41-year-old man with a lifelong history of fishy body odor was evaluated.
• Biochemical tests confirmed primary trimethylaminuria.
• Genetic analysis identified homozygosity for the FMO3/P153L mutation (c.458C --> T) in exon 4.

Findings:

• The patient's diagnosis of primary trimethylaminuria was confirmed through biochemical and genetic testing.
• A specific mutation, FMO3/P153L, was identified as the cause in this case.
• The patient reported that online information and discussions with his social network were the most effective therapeutic strategies.

Implications:

• Trimethylaminuria is a rare condition with significant psychological impact on patients.
• Counseling and social support are crucial components in managing the distress associated with this syndrome.
• Understanding the genetic basis and psychosocial aspects is vital for comprehensive patient care.