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

Mol Genet Metab. 2003 Dec;80(4):408-11. doi: 10.1016/j.ymgme.2003.07.002.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyltransferases
  • Adolescent
  • Cardiomyopathy, Dilated / drug therapy*
  • Cardiomyopathy, Dilated / etiology
  • Cardiomyopathy, Dilated / genetics
  • Child
  • Child, Preschool
  • Follow-Up Studies
  • Glutarates / urine
  • Granulocyte Colony-Stimulating Factor / therapeutic use
  • Heart Transplantation
  • Humans
  • Infant
  • Male
  • Mutation
  • Neutropenia / drug therapy*
  • Neutropenia / etiology
  • Neutropenia / genetics
  • Pantothenic Acid
  • Proteins / genetics
  • Retrospective Studies
  • Syndrome
  • Transcription Factors / genetics
  • Treatment Failure

Substances

  • Glutarates
  • Proteins
  • Transcription Factors
  • Granulocyte Colony-Stimulating Factor
  • Pantothenic Acid
  • 3-methylglutaconic acid
  • Acyltransferases
  • TAFAZZIN protein, human