Newborn screening for guanidinoacetate methyl transferase deficiency

Abstract: NBS for GAMTD commenced in Victoria, Australia in 2002. A cut-off of 5 μmol/L guanidinoacetate was used to screen dried blood spots from 771,345 newborns between April 2002 and April 2013. 127 babies (0.02%) had increased levels, prompting a request for a repeat dried blood spot. Three of these babies had increased guanidinoacetate in their second sample. Urine testing of these three babies for guanidinoacetate, creatine and creatinine did not indicate GAMTD.

Link to article: https://www.sciencedirect.com/science/article/abs/pii/S1096719214000079?via%3Dihub

PubMed:  https://pubmed.ncbi.nlm.nih.gov/24477282/

Authors: James J. Pitta,b, Nicholas Tzanakosa, , Thanh Nguyena

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