Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.

@article{StocklerIpsiroglu2014GuanidinoacetateM,
  title={Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.},
  author={Sylvia G Stockler-Ipsiroglu and Clara D M van Karnebeek and Nicola Longo and G Christoph Korenke and Saadet Mercimek-Mahmutoglu and Iris Marquart and Bruce A Barshop and Christiane Grolik and Andrea Schlune and Brad Angle and Helena Caldeira Ara{\'u}jo and Turgay Çoskun and Lu{\'i}sa M Diogo and Michael T. Geraghty and Goknur Haliloğlu and Vassiliki Konstantopoulou and Vincenzo Leuzzi and Alina Levtova and Jennifer J MacKenzie and Bruno Maranda and Aizeddin A. Mhanni and Grant A. Mitchell and Andrew A. Morris and Theresa Newlove and Deborah L. Renaud and Fernando Scaglia and Vassili Valayannopoulos and Francjan J van Spronsen and Krijn T. Verbruggen and Nataliya Yuskiv and William L. Nyhan and Andreas Schulze},
  journal={Molecular genetics and metabolism},
  year={2014},
  volume={111 1},
  pages={16-25}
}
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as the most affected domains was present in 44 participants, with additional epilepsy present in 35 and movement disorder in 13. Treatment regimens included various combinations/dosages of creatine-monohydrate, l-ornithine, sodium benzoate and protein/arginine restricted diets… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 3 times over the past 90 days. VIEW TWEETS
18 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 18 extracted citations

Similar Papers

Loading similar papers…