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