Last Updated: May 17, 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.
Written comments may be sent by e-mail to RA-TCNBSADMIN_Fax@pa.gov 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.