Long-term treatment of Barth syndrome with pantothenic acid: A retrospective study

Simone Rugolotto, Maria D. Prioli, Daniela Toniolo, PierAntonio Pellegrino, Susanna Catuogno, Alberto B. Burlina

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)408-411
Number of pages4
JournalMolecular Genetics and Metabolism
Volume80
Issue number4
DOIs
Publication statusPublished - Dec 2003

Keywords

  • 3-Methylglutaconic aciduria type II
  • Barth syndrome
  • Dilated cardiomyopathy
  • Neutropenia
  • Pantothenic acid

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

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