PRINTER'S NO. 472
THE GENERAL ASSEMBLY OF PENNSYLVANIA
HOUSE BILL
No.
451
Session of
2017
INTRODUCED BY MURT, BOBACK, FREEMAN, KINSEY, MILLARD, READSHAW,
ROZZI, SCHLOSSBERG, SCHWEYER, WARD, YOUNGBLOOD AND WATSON,
FEBRUARY 13, 2017
REFERRED TO COMMITTEE ON HEALTH, FEBRUARY 13, 2017
AN ACT
Amending the act of September 9, 1965 (P.L.497, No.251),
entitled, as amended, "An act requiring physicians, hospitals
and other institutions to administer or cause to be
administered tests for genetic diseases upon infants in
certain cases," further providing for the Newborn Child
Screening and Follow-up Program.
The General Assembly of the Commonwealth of Pennsylvania
hereby enacts as follows:
Section 1. Section 3(a)(2) of the act of September 9, 1965
(P.L.497, No.251), known as the Newborn Child Testing Act, is
amended to read:
Section 3. Newborn Child Screening and Follow-up Program.--
(a) In order to assist health care providers to determine
whether treatment or other services are necessary to avert
mental retardation, permanent disabilities or death, the
department, with the approval of the Newborn Screening and
Follow-up Technical Advisory Committee, shall establish a
program providing for:
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(2) Follow-up services relating to case management,
referrals, confirmatory testing, assessment and diagnosis of
newborn children with abnormal, inconclusive or unacceptable
screening test results for the following diseases:
(i) Phenylketonuria (PKU).
(ii) Maple syrup urine disease (MSUD).
(iii) Sickle-cell disease (hemoglobinopathies).
(iv) Isovaleric acidemia/Isovalery-CoA dehydrogenase
deficiency (IVA).
(v) Glutaric acidemia Type I/Glutaryl-CoA dehydrogenase
deficiency Type I (GA I).
(vi) 3-Hydroxy 3-methylglutaryl-CoA lyase deficiency (HMG).
(vii) Multiple carboxylase deficiency (MCD).
(viii) Methylmalonic acidemia (mutase deficiency) (MUT).
(ix) Methylmalonic acidemia (Cbl A,B).
(x) 3-Methylcrontonyl-CoA carboxylase deficiency (3MCC).
(xi) Propionic acidemia/Propionyl-CoA carboxylase deficiency
(PROP).
(xii) Beta-ketothiolase deficiency (BKT).
(xiii) Medium chain acyl-CoA dehydrogenase deficiency
(MCAD).
(xiv) Very long-chain acyl-CoA dehydrogenase deficiency
(VLCAD).
(xv) Long-chain L-3-OH acyl-CoA dehydrogenase deficiency
(LCHAD).
(xvi) Trifunctional protein deficiency (TFP).
(xvii) Carnitine uptake defect (CUD).
(xviii) Homocystinuria (HCY).
(xix) Tyrosinemia type I (TYR I).
(xx) Argininosuccinic acidemia (ASA).
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(xxi) Citrullinemia (CIT).
(xxii) Hb S/Beta-thalassemia (Hb S/Th).
(xxiii) Hb S/C disease (Hb S/C).
(xxiv) Congenital hypothyroidism (HYPOTH).
(xxv) Biotinidase deficiency (BIOT).
(xxvi) Congenital adrenal hyperplasia (CAH).
(xxvii) Galactosemia (GALT).
(xxviii) Cystic fibrosis (CF).
(xxix) Nonketotic hyperglycinemia (NKH).
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Section 2. This act shall take effect in 60 days.
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