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Start free with EleplanBarth syndrome
ORPHA:111Disease
Also called 3-methylglutaconic aciduria type 2 · BTHS · Cardioskeletal myopathy with neutropenia and abnormal mitochondria · Cardioskeletal myopathy-neutropenia syndrome · MGA2 · X-linked cardioskeletal myopathy and neutropenia
What it is
Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Inheritance
- X-linked recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
25- 3-Methylglutaric aciduria
- Anxiety
- Arrhythmia
- Broad forehead
- Decreased circulating prealbumin concentration
- Decreased total neutrophil count
- Deeply set eye
- Delayed gross motor development
- Delayed skeletal maturation
- Elevated circulating hepatic transaminase concentration
- Elevated monolysocardiolipin/cardiolipin ratioPathognomonic sign
- Endocardial fibroelastosis
- Exercise intolerance
- Full cheeks
- Hypocholesterolemia
- Hypotonia
- Increased total monocyte count
- Lactic acidosis
- Muscle weakness
- Oral ulcer
- Pointed chin
- Postnatal growth retardation
- Prolonged QTc interval
- Round face
- Tube feeding
Sometimes5–29%
12- Chronic pain
- Depression
- Failure to thrive
- Feeding difficulties in infancy
- Hepatic steatosis
- Hydrops fetalis
- Hypertrophic cardiomyopathy
- Intrauterine growth retardation
and 4 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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