Upregulation of respiratory chain enzymes in guanidinoacetate methyltransferase deficiency

@article{Das2000UpregulationOR,
  title={Upregulation of respiratory chain enzymes in guanidinoacetate methyltransferase deficiency},
  author={Anibh Martin Das and Kurt Ullrich and Dirk Isbrandt},
  journal={Journal of Inherited Metabolic Disease},
  year={2000},
  volume={23},
  pages={375-377}
}
In guanidinoacetate N-methyltransferase (GAMT) deÐciency (McKusick 601240) synthesis of creatine is compromised. This leads to intracellular depletion of creatine phosphate, which serves as a short-term “energy bu†er Ï, especially in organs with high, Ñuctuating energy demand like the brain. Therefore, cells from GAMTdeÐcient patients have to rely almost exclusively on ATP produced directly by the mitochondrial respiratory chain. This increased metabolic strain on the respiratory chain may lead… CONTINUE READING

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