| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10832490 | Molecular Genetics and Metabolism | 2016 | 5 Pages |
Abstract
A three-tier algorithm for GAMT newborn screening showed excellent test performance with zero false positives. No cases were detected, supporting a low incidence for this disorder. Given the low incremental costs and evidence of positive outcomes with early intervention, GAMT deficiency remains an excellent candidate for newborn screening.
Keywords
Guanidinoacetate N-methyltransferaseACNMSUDGAAarginine:glycine amidinotransferaseACMGAGATLC-MS/MSdistilled deionized waterAcetonitrileBritish columbiaMaple syrup urine diseaseMass spectrometryNewborn screeningAmerican College of Medical Geneticscreatineliquid chromatography tandem mass spectrometryGAMTGuanidinoacetate methyltransferaseGuanidinoacetate
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Authors
Graham B. Sinclair, Clara D.M. van Karnebeek, Manuel Ester, Frances Boyd, Tanya Nelson, Sylvia Stockler-Ipsiroglu, Hilary Vallance,