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Barth syndrome
Epidemiology:
1) rare, congenital disorder
2) affects at least 50 families worldwide, but may be underdiagnosed
3) affects boys
Pathology:
1) metabolic changes
2) cardiomyopathy
3) weakened immune system
4) hypoglycemia
Genetics:
- X-linked inheritance
- TAFAZZIN gene mutations
Clinical manifestations:
1) motor delays
2) hypotonia
3) delayed growth
4) chronic fatigue
5) lack of stamina
6) mouth ulcers
7) diarrhea
8) physical & learning disability
Laboratory:
1) hypoglycemia
2) neutropenia
3) 3-methylglutaconic aciduria
Management:
1) elamipretide investigational
2) bacterial infections in the context of neutropenia can be effectively treated with antibiotics
3) granulocyte colony stimulating factor (G-CSF) is useful
4) treat cardiomyopathy if indicated
5) 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
General
neuromuscular disease; myoneural disease
metabolic disease
developmental disorder
X-linked disease
References
- Lou N
Elamipretide for Barth Syndrome Survives FDA Advisory Vote.
Panelists acknowledge difficulty generating stronger data in ultra-rare disease.
MedPage Today October 11, 2024
https://www.medpagetoday.com/publichealthpolicy/fdageneral/112353
- NINDS Barth Syndrome Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Barth-Syndrome-Information-Page