Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency.

@article{Torremans2005BiochemicalAB,
  title={Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency.},
  author={An Torremans and Bart Marescau and Ilse Possemiers and Debby Van Dam and Rudi D'hooge and Dirk Isbrandt and Peter Paul De Deyn},
  journal={Journal of the neurological sciences},
  year={2005},
  volume={231 1-2},
  pages={49-55}
}
Deficiency of guanidinoacetate N-methyltransferase (GAMT) is the first described creatine (CT) deficiency syndrome in man, biochemically characterized by accumulation of guanidinoacetic acid (GAA) and depletion of CT. Patients exhibit severe developmental and muscular problems. We created a mouse model for GAMT deficiency, which exerts biochemical changes comparable with those found in human GAMT-deficient subjects. CT and creatinine (CTN) levels are significantly decreased and GAA is increased… CONTINUE READING