High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?

@article{Spronsen2006HighCG,
  title={High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?},
  author={Francjan J van Spronsen and Dirk-Jan Reijngoud and Nanda M. Verhoeven and Roelineke J. Soorani-Lunsing and Cornelis Jakobs and Paul E. Sijens},
  journal={Molecular genetics and metabolism},
  year={2006},
  volume={89 3},
  pages={274-6}
}
Cerebral creatine and guanidinoacetate and blood and urine metabolites were studied in four patients with argininosuccinate synthetase (ASS) or argininosuccinate lyase (ASL) deficiency receiving large doses of arginine. Urine and blood metabolites varied largely. Cerebral guanidinoacetate was increased in all patients, while cerebral creatine was low in ASS and high in ASL deficiency. Because high cerebral guanidinoacetate might be toxic, lowering the arginine supplementation with additional… CONTINUE READING