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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • El-Gharbawy, AH; Goldstein, JL; Millington, DS; Vaisnins, AE; Schlune, A; Barshop, BA; Schulze, A; Koeberl, DD; Young, SP

Published Date

  • June 2013

Published In

Volume / Issue

  • 109 / 2

Start / End Page

  • 215 - 217

PubMed ID

  • 23583224

Pubmed Central ID

  • 23583224

Electronic International Standard Serial Number (EISSN)

  • 1096-7206

Digital Object Identifier (DOI)

  • 10.1016/j.ymgme.2013.03.003

Language

  • eng

Conference Location

  • United States