Journal
MOLECULAR GENETICS AND METABOLISM
Volume 85, Issue 4, Pages 286-290Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2005.04.004
Keywords
propionic acidemia; cardiomyopathy; carnitine deficiency
Funding
- NICHD NIH HHS [HD 04612, HD-06576, HD-36415] Funding Source: Medline
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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. (c) 2005 Elsevier Inc. All rights reserved.
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