Neurodegeneration and chronic renal failure in methylmalonic aciduria—A pathophysiological approach

@article{Morath2007NeurodegenerationAC,
  title={Neurodegeneration and chronic renal failure in methylmalonic aciduria—A pathophysiological approach},
  author={Marina Alexandra Morath and Juergen Guenther Okun and Ida Beatriz M{\"u}ller and Sven Wolfgang Sauer and Friederike Hoerster and Georg Friedrich Hoffmann and Stefan Koelker},
  journal={Journal of Inherited Metabolic Disease},
  year={2007},
  volume={31},
  pages={35-43}
}
SummaryIn the last decades the survival of patients with methylmalonic aciduria has been improved. However, the overall outcome of affected patients remains disappointing. The disease course is often complicated by acute life-threatening metabolic crises, which can result in multiple organ failure or even death, resembling primary defects of mitochondrial energy metabolism. Biochemical abnormalities during metabolic derangement, such as metabolic acidosis, ketonaemia/ketonuria, lactic acidosis… CONTINUE READING
BETA

Citations

Publications citing this paper.
SHOWING 1-10 OF 45 CITATIONS

Renal Involvement in Methylmalonic Aciduria

  • Kidney international reports
  • 2017
VIEW 3 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

References

Publications referenced by this paper.
SHOWING 1-10 OF 70 REFERENCES

Methylmalonic acid — an endogenous toxin?

  • Cellular and Molecular Life Sciences
  • 2005
VIEW 5 EXCERPTS
HIGHLY INFLUENTIAL

On the mechanism of action of the antifungal agent propionate.

  • European journal of biochemistry
  • 2004
VIEW 6 EXCERPTS
HIGHLY INFLUENTIAL

Transport of organic anions across the basolateral membrane of proximal tubule cells.

  • Reviews of physiology, biochemistry and pharmacology
  • 2003
VIEW 14 EXCERPTS
HIGHLY INFLUENTIAL

Evidence for mitochondrial uptake of glutathione by dicarboxylate and 2-oxoglutarate carriers.

  • The Journal of pharmacology and experimental therapeutics
  • 1998
VIEW 7 EXCERPTS
HIGHLY INFLUENTIAL

Similar Papers

Loading similar papers…