Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy

Rebecca Mardach, M. Anthony Verity, Stephen D. Cederbaum

Research output: Contribution to journalArticlepeer-review

65 Scopus citations

Abstract

A patient diagnosed at 9 months with a milder form of propionic acidemia was functioning at a near normal intellectual level and a normal neurological level at age 8. After 2-week history of feeling "poorly" but functioning normally, she became acutely ill and succumbed to heart failure and ventricular fibrillation in 12 h. At post-mortem the heart was hypertrophied and had low carnitine levels, despite carnitine supplementation and repeatedly normal plasma carnitine levels. The findings in this patient provide a possible mechanism for the cardiac complications that are becoming more apparent in propionic acidemia.

Original languageEnglish (US)
Pages (from-to)286-290
Number of pages5
JournalMolecular Genetics and Metabolism
Volume85
Issue number4
DOIs
StatePublished - Aug 1 2005

Keywords

  • Cardiomyopathy
  • Carnitine deficiency
  • Propionic acidemia

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

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