Newborn screening for guanidinoacetate methyl transferase deficiency

Mol Genet Metab. 2014 Mar;111(3):303-304. doi: 10.1016/j.ymgme.2014.01.005. Epub 2014 Jan 15.
No abstract available

Keywords: Guanidinoacetate methyltransferase deficiency; Newborn screening.

Publication types

  • Comment

MeSH terms

  • Arginine / deficiency*
  • Arginine / metabolism*
  • Arginine / therapeutic use*
  • Creatine / metabolism*
  • Creatine / therapeutic use*
  • Diet*
  • Female
  • Glycine / analogs & derivatives*
  • Guanidinoacetate N-Methyltransferase / deficiency*
  • Humans
  • Intellectual Disability / therapy*
  • Language Development Disorders / therapy*
  • Male
  • Metabolism, Inborn Errors / diet therapy*
  • Metabolism, Inborn Errors / enzymology*
  • Movement Disorders / congenital*
  • Ornithine / therapeutic use*
  • Sodium Benzoate / therapeutic use*

Substances

  • Arginine
  • Ornithine
  • Guanidinoacetate N-Methyltransferase
  • Creatine
  • Sodium Benzoate
  • Glycine