Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism.

@article{Ilas2000GuanidinoacetateM,
  title={Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism.},
  author={J Ilas and Adolf Muehl and Sylvia Stoeckler-Ipsiroglu},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={2000},
  volume={290 2},
  pages={179-88}
}
Guanidinoacetate methyltransferase deficiency is a newly recognized inborn error of creatine biosynthesis. Manifestation of neurologic symptoms occurs in infancy and is partly reversible upon oral substitution of creatine. In the first two index patients, enzymatic diagnosis was established in a liver biopsy, and the underlying molecular defect in the GAMT gene has been identified. In order to provide non-invasive biochemical diagnosis, we have developed an enzyme assay based on the formation… CONTINUE READING