We report on three patients (two are brothers) with confirmed Barth syndrome treated with pantothenic acid. This treatment is still controversial and only one study has reported positive results to date. In our patients, long-term treatment has failed to reduce the number of infectious episodes and prevent dilated cardiomyopathy. Our cases show that this treatment is not as effective in Barth syndrome as was previously claimed.
- 3-Methylglutaconic aciduria type II
- Barth syndrome
- Dilated cardiomyopathy
- Pantothenic acid
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism