PRINTER'S NO. 1045
No. 819 Session of 2005
INTRODUCED BY ORIE, KITCHEN, ERICKSON, BROWNE, PILEGGI,
TARTAGLIONE, COSTA, PIPPY, WONDERLING, C. WILLIAMS, RHOADES,
O'PAKE AND RAFFERTY, JUNE 30, 2005
REFERRED TO PUBLIC HEALTH AND WELFARE, JUNE 30, 2005
AN ACT
1 Amending the act of September 9, 1965 (P.L.497, No.251),
2 entitled "An act requiring physicians, hospitals and other
3 institutions to administer or cause to be administered tests
4 for phenylketonuria and other metabolic diseases upon infants
5 in certain cases," further providing for newborn child
6 screening and testing; and making editorial changes.
7 The General Assembly of the Commonwealth of Pennsylvania
8 hereby enacts as follows:
9 Section 1. The title of the act of September 9, 1965
10 (P.L.497, No.251), known as the Newborn Child Testing Act, is
11 amended to read:
12 Requiring physicians, hospitals and other institutions to
13 administer or cause to be administered tests for
14 [phenylketonuria and other metabolic] genetic diseases upon
15 infants in certain cases.
16 Section 2. Section 3 of the act, added July 9, 1992
17 (P.L.398, No.86), is amended to read:
18 Section 3. Newborn Child Screening and Follow-up Program.--
19 (a) In order to assist health care providers to determine
1 whether treatment or other services are necessary to avert
2 mental retardation, permanent disabilities or death, the
3 department, with the approval of the board, shall establish a
4 program providing for:
5 (1) The screening tests of newborn children for diseases.
6 (2) Follow-up services relating to confirmatory testing,
7 assessment and diagnosis of newborn children with abnormal or
8 inconclusive screening test results.
9 (b) The department, with the approval of the board, shall
10 establish by regulation those diseases[, in addition to
11 phenylketonuria (PKU), maple syrup urine disease (MSUD) and
12 sickle-cell disease (hemoglobinopathies),] for which newborn
13 children shall be tested and the methods for testing [and
14 disseminating test results.] shall at a minimum include the
15 following:
16 (1) Argininosuccinic acidemia (ASA).
17 (2) Beta-ketothiolase deficiency (BKT).
18 (3) Biotinidase deficiency (BIOT).
19 (4) Carnitine uptake defect (CUD).
20 (5) Citrullinemia (CIT).
21 (6) Congenital adrenal hyperplasia (CAH).
22 (7) Congenital hypothyroidism (HYPOTH).
23 (8) Cystic fibrosis (CF).
24 (9) Galactosemia (GALT).
25 (10) Glutaric acidemia type I (GAI)
26 (11) Hb S/Beta-thalassemia (Hb S/Th).
27 (12) Hb S/C disease (Hb S/C).
28 (13) Hearing deficiency (HEAR).
29 (14) Homocystinuria (HCY).
30 (15) Isovaleric acidemia (IVA).
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1 (16) Long-chain L-3-OH acyl-CoA dehydrogenase deficiency
2 (LCHAD).
3 (17) Maple syrup urine disease (MSUD).
4 (18) Medium-chain acyl-CoA dehydrogenase deficiency (MCAD).
5 (19) Methylmalonic acidemia (Cbl A,B).
6 (20) Methylmalonic acidemia (mutase deficiency) (MUT).
7 (21) 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC).
8 (22) Multiple carboxylase deficiency (MCD).
9 (23) 3-OH 3-CH3 glutaric aciduria (HMG).
10 (24) Phenylketonuria (PKU).
11 (25) Propionic acidemia (PROP).
12 (26) Sickle cell anemia (SCA).
13 (27) Trifunctional protein deficiency (TFP).
14 (28) Tyrosinemia type I (TYRI).
15 (29) Very long-chain acyl-CoA dehydrogenase deficiency
16 (VLCAD).
17 The following conditions should be included as "report only":
18 (1) Argininemia (ARG).
19 (2) Carnitine acylcarnitine translocase deficiency (CACT).
20 (3) Carnitine palmitoyltransferase I deficiency (liver)
21 (CPT-IA).
22 (4) Carnitine palmitoyltransferase II deficiency (CPT-II).
23 (5) Citrullinemia type 2 (CIT-II).
24 (6) Defects of biopterin cofactor biosynthesis (BIOPT (BS)).
25 (7) Defects of biopterin cofactor regeneration (BIOPT
26 (REG)).
27 (8) Dienoyl-CoA reductase deficiency (DE REDUCT).
28 (9) Galactokinase deficiency (GALK).
29 (10) Galactose epimerase deficiency (GALE).
30 (11) Glutaric acidemia type 2 (GA2).
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1 (12) Hemoglobin variants (including Hb E=Hemoglobin E)
2 (Variant Hb).
3 (13) Hypermethioninemia (MET).
4 (14) Hyperphenylalaninemia, benign (not PKU) (Hyper-PHE).
5 (15) Isobutyryl-CoA dehydrogenase deficiency (IBG).
6 (16) Malonic acidemia (MAL).
7 (17) Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT).
8 (18) Medium/short chain L-3-OH acyl-CoA dehydrogenase
9 deficiency (M/SCHAD).
10 (19) 2-Methyl 3-hydroxy butyric aciduria (2M3HBA).
11 (20) 2-Methybutyryl-CoA dehydrogenase deficiency (2MBG).
12 (21) 3-Methylglutaconic aciduria (3MGA).
13 (22) Methylmalonic acidemia, Cbl C and Cbl D forms (Cbl
14 C,D).
15 (23) Short chain acyl-CoA dehydrogenase deficiency (SCAD).
16 (24) Tyrosinemia type 2 (TYR-II).
17 (25) Tyrosinemia type 3 (TYR-III).
18 (b.1) The listing of tests for heritable disorders may be
19 revised to include conditions as deemed appropriate by the
20 department based on the recommendations of the American College
21 of Medical Genetics.
22 (c) No screening test shall be performed if a parent or
23 guardian dissents on the ground that the test conflicts with a
24 religious belief or practice.
25 (d) The sum of $2,000,000, or as much thereof as may be
26 necessary, is hereby appropriated to the Department of Health to
27 carry out the purpose of this act.
28 Section 3. This act shall take effect in 60 days.
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