Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency

Mol Genet Metab. 2013 Jun;109(2):215-7. doi: 10.1016/j.ymgme.2013.03.003. Epub 2013 Mar 16.

Abstract

Guanidinoacetate methyltransferase (GAMT) deficiency is a good candidate disorder for newborn screening because early treatment appears to improve outcomes. We report elevation of guanidinoacetate in archived newborn dried blood spots for 3 cases (2 families) of GAMT deficiency compared with an unaffected carrier and controls. We also report a new case of a patient treated from birth with normal developmental outcome at the age of 42 months.

MeSH terms

  • Case-Control Studies
  • Child, Preschool
  • Creatine / therapeutic use
  • Dried Blood Spot Testing
  • Early Diagnosis
  • Female
  • Glycine / analogs & derivatives*
  • Glycine / blood
  • Guanidinoacetate N-Methyltransferase / blood
  • Guanidinoacetate N-Methyltransferase / deficiency*
  • Humans
  • Infant
  • Infant, Newborn
  • Language Development Disorders / blood
  • Language Development Disorders / diagnosis
  • Language Development Disorders / therapy*
  • Male
  • Movement Disorders / blood
  • Movement Disorders / congenital*
  • Movement Disorders / diagnosis
  • Movement Disorders / therapy
  • Ornithine / therapeutic use
  • Treatment Outcome

Substances

  • Ornithine
  • Guanidinoacetate N-Methyltransferase
  • glycocyamine
  • Creatine
  • Glycine

Supplementary concepts

  • Guanidinoacetate methyltransferase deficiency