Barth syndrome

Epidemiology

• rare, congenital disorder
• affects at least 50 families worldwide, but may be underdiagnosed
• affects boys

Pathology

• metabolic changes
• cardiomyopathy
• weakened immune system
• hypoglycemia

Genetics

• X-linked inheritance
• TAFAZZIN gene mutations

Clinical manifestations

• motor delays
• hypotonia
• delayed growth
• chronic fatigue
• lack of stamina
• mouth ulcers
• diarrhea
• physical & learning disability

Laboratory

• hypoglycemia
• neutropenia
• 3-methylglutaconic aciduria

Management

• elamipretide investigational
• bacterial infections in the context of neutropenia can be effectively treated with antibiotics
• granulocyte colony stimulating factor (G-CSF) is useful
• treat cardiomyopathy if indicated
• dietary supplementation with carnitine helps some, but in others has resulted in increasing muscle weakness & has precipitated heart failure

Prognosis:

• infections & heart failure are common causes of death

More general terms

• neuromuscular disease; myoneural disease
• metabolic disease
• developmental disorder
• X-linked disease

Patient information

Barth syndrome patient information