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

Mol Genet Metab. 2005 Aug;85(4):286-90. doi: 10.1016/j.ymgme.2005.04.004.

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / pathology*
  • Cardiomyopathies / etiology
  • Cardiomyopathies / pathology*
  • Carnitine / analysis*
  • Carnitine / deficiency
  • Child
  • Electrocardiography
  • Fatal Outcome
  • Female
  • Humans
  • Muscle, Skeletal / chemistry
  • Muscle, Skeletal / enzymology
  • Myocardium / chemistry*
  • Myocardium / enzymology
  • Propionates / blood*

Substances

  • Propionates
  • Carnitine