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PA Bulletin, Doc. No. 23-600



Addition of Guanidinoacetate Methyltransferase Deficiency to the Supplemental Conditions Mandated for Newborn Screening in this Commonwealth; Public Comment

[53 Pa.B. 2486]
[Saturday, May 6, 2023]

 The United States Secretary of Health and Human Services approved the Advisory Committee on Heritable Disorders in Newborns and Children recommendation to add Guanidinoacetate Methyltransferase (GAMT) deficiency to the Recommended Uniform Screening Panel on January 4, 2023. The Department of Health's (Department) Division of Newborn Screening and Genetics (DNSG), with support of the Newborn Screening and Follow-up Technical Advisory Board (NSFTAB), is proposing that GAMT deficiency screening be added effective January 1, 2024, to the supplemental conditions mandated for screening by submitters within this Commonwealth and follow-up by the DNSG.

 GAMT deficiency is an autosomal recessive disorder that impairs the production of creatine and leads to build up of guanidinoacetate. GAMT deficiency can result in seizures, intellectual disability, movement disorders and muscle weakness.

 Under section 3 of the Newborn Child Testing Act (35 P.S. § 623), a 30-day public comment period is required before changes are made to the list of conditions for which newborn children are screened and laboratory screening results reported. Written comments regarding the Department and NSFTAB's proposal to add GAMT deficiency to the list of conditions may be sent by e-mail to or by mail to the Department of Health, Division of Newborn Screening and Genetics, 625 Forster Steet, 7th Floor East, Harrisburg, PA 17120. Written comments must be received by June 9, 2023, to be considered.

 For additional information, contact Jennifer Bixler, Public Health Program Director, Division of Newborn Screening and Genetics, at (717) 783-8143. Speech and/or hearing-impaired persons use V/TT (717) 783-6514 or the Pennsylvania Hamilton Relay Service at (800) 654-5984 (TT).

Acting Secretary

[Pa.B. Doc. No. 23-600. Filed for public inspection May 5, 2023, 9:00 a.m.]

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