Short answer · Medically reviewed summary · Last updated: 2026-05-08
Barth Syndrome is primarily known by its eponymous name, though it was historically referred to as 3-methylglutaconic aciduria type II. It is a rare X-linked genetic disorder, and clinicians today exclusively use the term Barth Syndrome to ensure clarity in medical documentation and research. What are the historical and alternative names for Barth Syndrome? Before the specific genetic cause was identified, Barth Syndrome was often categorized by its metabolic markers.
Barth Syndrome synonyms
Other names for Barth Syndrome: synonyms, acronyms and related terms used by doctors and patients.
Barth Syndrome is primarily known by its eponymous name, though it was historically referred to as 3-methylglutaconic aciduria type II. It is a rare X-linked genetic disorder, and clinicians today exclusively use the term Barth Syndrome to ensure clarity in medical documentation and research.
What are the historical and alternative names for Barth Syndrome?
Before the specific genetic cause was identified, Barth Syndrome was often categorized by its metabolic markers. In older medical literature, you may encounter the term 3-methylglutaconic aciduria type II, which describes the elevated levels of 3-methylglutaconic acid in the urine. Because Barth Syndrome involves complex multisystem involvement, some older records might simply list the individual manifestations, such as infantile cardiomyopathy or cyclic neutropenia, rather than the encompassing syndrome name.
How is Barth Syndrome classified in medical systems?
Standardized medical classification systems have adopted Barth Syndrome as the official diagnostic term to avoid confusion with other metabolic disorders. The following identifiers are used in global databases:
- OMIM (Online Mendelian Inheritance in Man): #302060
- Orphanet: ORPHA104
- ICD-10: E88.89 (Other specified metabolic disorders)
- ICD-11: 5C53.Y (Other specified inborn errors of metabolism)
Why does Barth Syndrome have multiple names?
The naming of Barth Syndrome reflects the evolution of clinical genetics. It was first described by Dr. Peter Barth in 1983. Historically, rare diseases were frequently named after the specific biochemical abnormality (like the aforementioned aciduria) until genetic testing allowed for more precise, syndromic naming. Today, Barth Syndrome is the preferred term used by the medical community and the Barth Syndrome Foundation to maintain a unified identity for patients and researchers.
What should you know about current terminology?
While you may still see older terms in archival patient records, Barth Syndrome is the international standard. At DiseaseMaps.org, we track the experiences of 4 community members living with Barth Syndrome to help bridge the gap between historical nomenclature and modern clinical understanding.
Next steps
- Consult with a metabolic geneticist to confirm your specific diagnosis and review your medical records for accurate terminology.
- Visit the Barth Syndrome Foundation website for the most up-to-date clinical guidelines.
- Connect with the 4 other members on DiseaseMaps.org to share insights on navigating healthcare systems.
Medical disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of a qualified physician with any questions regarding a medical condition.
