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

@article{Mardach2005ClinicalPA,
  title={Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy.},
  author={Rebecca Mardach and M. Anthony Verity and Stephen D. Cederbaum},
  journal={Molecular genetics and metabolism},
  year={2005},
  volume={85 4},
  pages={286-90}
}
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… CONTINUE READING

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