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PA Bulletin, Doc. No. 23-188

NOTICES

DEPARTMENT OF HEALTH

Addition of Mucopolysaccharidosis Type II to the Supplemental Conditions Mandated for Screening in this Commonwealth; Public Comment

[53 Pa.B. 907]
[Saturday, February 11, 2023]

 The Secretary of Health and Human Services approved the Advisory Committee on Heritable Disorders in Newborns and Children's recommendation to add Mucopolysaccharidosis Type II Disorder (MPS II) to the Recommended Uniform Screening Panel on August 2, 2022. The Department of Health's (Department) Division of Newborn Screening and Genetics, with support of the Newborn Screening and Follow-up Technical Advisory Board (Board) and its lysosomal storage disorder subcommittee, is proposing that MPS II screening be added effective July 1, 2023, to the supplemental conditions mandated for screening and follow-up by Commonwealth submitters and follow-up by the Commonwealth newborn screening program.

 MPS II, also referred to as Hunter Syndrome, is an X-linked lysosomal storage disorder caused by the deficiency of the enzyme iduronate 2- sulfatase, which is needed to break down complex sugars, glycosaminoglycans within the lysosomes. The severe form is characterized by progressive intellectual disability, the development of characteristic facial features, progressive joint stiffness that can limit mobility and progressive involvement of the liver, spleen and heart.

 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 Board's proposal to add MPS II to the list of conditions may be sent to RA-TCNBSAdmin_ Fax@pa.gov or to the Department of Health, Division of Newborn Screening and Genetics, 625 Forster Street, 7th Floor East, Harrisburg, PA 17120. Written comments must be received by March 13, 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).

DR. DEBRA L. BOGEN, 
Acting Secretary

[Pa.B. Doc. No. 23-188. Filed for public inspection February 10, 2023, 9:00 a.m.]


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