Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency

Mol Genet Metab. 2012 Jan;105(1):155-8. doi: 10.1016/j.ymgme.2011.09.037. Epub 2011 Oct 6.


A 4-year-old female with history of developmental regression and autistic features was diagnosed with guanidinoacetate methyltransferase deficiency at age 21 months. Upon treatment, she showed improvements in her developmental milestones, sensorial-neural hearing loss and brain atrophy on cranial-MRI. The creatine/choline ratio increased 82% in basal ganglia and 88% in white matter on cranial MR-spectroscopy. The CSF guanidinoacetate decreased 80% after six months of ornithine and creatine supplementation and an additional 8% after 18 months of additional arginine restricted diet. We report the most favorable clinical and biochemical outcome on treatment in our patient.

Publication types

  • Case Reports
  • Evaluation Study

MeSH terms

  • Arginine / deficiency*
  • Child, Preschool
  • Diet*
  • Female
  • Glycine / analogs & derivatives
  • Glycine / blood
  • Glycine / cerebrospinal fluid
  • Glycine / urine
  • Guanidinoacetate N-Methyltransferase / deficiency*
  • Guanidinoacetate N-Methyltransferase / metabolism
  • Humans
  • Infant
  • Infant, Newborn
  • Metabolism, Inborn Errors / diet therapy*
  • Metabolism, Inborn Errors / enzymology*
  • Treatment Outcome


  • Arginine
  • GAMT protein, human
  • Guanidinoacetate N-Methyltransferase
  • glycocyamine
  • Glycine