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

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.

Link to article: https://www.sciencedirect.com/science/article/abs/pii/S1096719213000929?via%3Dihub#!

PubMed: https://pubmed.ncbi.nlm.nih.gov/23583224/

Authors: Areeg El-Gharbawya, Jennifer L. Goldsteina, David S.Millingtona, Amie E.Vaisnins,, Andrea Schluze, Bruce A.Barshop, Andreas Schulzee, Dwight D. Koeberla, Sarah P. Younga

Key Terms:GAMT, NBS, Clinical Study, Supplements, Pediatric Patient