Living with 3-Methylglutaconic aciduria type 2
A rare condition, also called Barth syndrome, that mainly affects the heart, muscles, and white blood cells in boys and men.
Understanding 3-Methylglutaconic aciduria type 2
It brings an enlarged, weakened heart (dilated cardiomyopathy), muscle weakness, frequent infections from low white blood cell counts (neutropenia), and short stature. It occurs almost exclusively in males. Heart problems are often present at birth or start in the first months of life. Low muscle tone and tiredness with hard activity are common. GARD lists onset as childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged, weakened heart (dilated cardiomyopathy)
- Thickened heart muscle lining (endocardial fibroelastosis)
- Low white blood cell counts (neutropenia)
- Muscle weakness and low muscle tone
- Delayed crawling and walking
- Short stature
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, brain and nervous system specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in TAFAZZIN are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Children's Cardiomyopathy Foundation, United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation, United Mitochondrial Disease Foundation, MitoAction
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Barth Syndrome Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the TAFAZZIN gene cause this condition. GARD lists X-linked and mitochondrial inheritance, which fits with it occurring almost only in males.
Also known as: 3-methylglutaconicaciduria type 2; 3-methylglutaconicaciduria type ii; barth syndrome; barth syndrome, x-linked recessive; bths; cardioskeletal myopathy with neutropenia and abnormal mitochondria
Patient organizations
- Barth Syndrome Foundation3-Methylglutaconic aciduria type 2 · United States
- Organic Acidemia Association3-Methylglutaconic aciduria type 2 · United States
- National Neutropenia Network3-Methylglutaconic aciduria type 2 · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with 3-Methylglutaconic aciduria type 2.
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