Propionic acidemia: unusual course with late onset and fatal outcome.

@article{Lcke2004PropionicAU,
  title={Propionic acidemia: unusual course with late onset and fatal outcome.},
  author={Thomas L{\"u}cke and C Perez-Cerd{\'a} and Matthias R. Baumgartner and Brian E. Fowler and Stefanie Sander and Michael Sasse and Sabine G. Scholl and M. Delores Ugarte and Anibh Martin Das},
  journal={Metabolism: clinical and experimental},
  year={2004},
  volume={53 6},
  pages={
          809-10
        }
}
A 4 1/2-year-old girl with a so far unremarkable medical history became comatose during a simple infection. She showed severe metabolic acidosis without elevation of lactate. In blood the branched-chain amino acids were increased. In urine ketone-bodies, increased 3-OH-isovaleric and 3-OH propionic acid excretion were detected, while methylmalonate was not found. The profile of acylcarnitines revealed increased propionylcarnitine. Despite restriction of protein supply, high-caloric nutrition… CONTINUE READING
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