A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening
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- 作者：Graham B. Sinclaira ; c ; d ; e ; gsinclair@cw.bc.ca" class="auth_mail" title="E-mail the corresponding author ; Clara D.M. van Karnebeekb ; c ; d ; e ; f ; Manuel Estera ; d ; Frances Boyda ; d ; Tanya Nelsona ; d ; e ; Sylvia Stockler-Ipsiroglub ; c ; d ; e ; Hilary Vallancea ; c ; d ; e
- 关键词：GAMT ; guanidinoacetate methyltransferase ; BC ; British Columbia ; GAA ; guanidinoacetate ; LC-MS/MS ; liquid chromatography tandem mass spectrometry ; MSUD ; maple syrup urine disease ; AGAT ; arginine ; glycine amidinotransferase ; ddH20 ; distilled deionized water ; ACN ; acetonitrile ; ACMG ; American college of medical genetics ; Human gene ; GAMT (HGNC ; 416) ; guanidinoacetate N-methyltransferase ; Human gene ; SLC6A8 (HGNC ; 11055) ; solute carrier family 6 (neurotransmitter transporter) ; member 8
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：July 2016
- 年：2016
- 卷：118
- 期：3
- 页码：173-177
- 全文大小：622 K
文摘
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Newborn screening for Guanidinoacetate Methyltransferase deficiency is feasible.
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First and second-tier guanidinoacetate measurement can be integrated into existing assays.
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A three-tiered algorithm including GAMT sequencing has a zero false positive rate.
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GAMT deficiency remains a rare disorder with no cases detected in 135,000 births.