Code of Maryland Regulations › Title 10 - MARYLAND DEPARTMENT OF HEALTH › Part 5 › Subtitle 52 - PREVENTIVE MEDICINE › Chapter 10.52.12 - Newborn Screening › Section 10.52.12.05 - Selection of Disorders for Screening

Current through Register Vol. 51, No. 14, July 12, 2024
A. The Department, with the advice of the
				  Council, shall select the disorders for which screening is required by the
				  Newborn Screening Program.
B. The
				  selected disorders are:
(1) Biotinidase
				  deficiency;
(2) Congenital adrenal
				  hyperplasia (CAH);
(3)
				  Hypothyroidism;
(4) Galactosemia,
				  galactose-1-phosphate uridyl transferase deficiency (GALT);
(5) Epimerase Galactosemia, uridine
				  diphosphate-galactose-4-epimerase deficiency (GALE);
(6) Galactokinase Galactosemia, galactokinase
				  deficiency (GALK1);
(7) Sickle cell
				  disease;
(8) Sickle cell disease: S
				  beta-thalessemia;
(9) Sickle C
				  disease: SC disease;
(10) Other
				  hemoglobin variants;
(11)
				  Phenylketonuria (PKU);
(12)
				  Hyperphenylalaninemia (Hyper-PHE);
(13) Biopterin cofactor biosynthesis defects
				  (BIOPT-BS);
(14) Biopterin cofactor
				  regeneration defects (BIOPT-REG);
(15) Tyrosinemia, type I;
(16) Tyrosinemia, type II;
(17) Tyrosinemia, type III;
(18) Homocystinuria;
(19) Hypermethioninemia;
(20) Branched chain ketoaciduria (BCK), also
				  called maple syrup urine disease (MSUD);
(21) Citrullinemia, type I;
(22) Citrullinemia, type II;
(23) Arginosuccinic aciduria;
(24) Argininemia;
(25) Methylmalonic acidemia, mutase
				  deficiency (MMA);
(26)
				  Methylmalonic acidemia, adenosylcobalamin synthesis defects A and B (Cbl A,
				  B);
(27) Methylmalonic acidemia,
				  adenosylcobalamin synthesis defects C and D (Cbl C, D);
(28) Propionic acidemia (PA);
(29) Isovaleric acidemia (IVA);
(30) Glutaric aciduria type I (GA
				  I);
(31)
				  3-Hydroxy-3-methylglutaryl-CoA (HMG) lysase deficiency;
(32) Isobutryl-CoA dehydrogenase (IBCD)
				  deficiency;
(33)
				  2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG);
(34) 3-Methlycrotonyl-CoA carboxylase
				  deficiency (3MCC);
(35)
				  3-Methlyglutaconyl-CoA hydratase deficiency (3MGA);
(36) 2-Methyl-3-hydroxybutyrl-CoA
				  dehydrogenase deficiency (2M3HBA);
(37) Mitochondrial acetoacetyl-CoA thiolase
				  (3-ketothiolase) deficiency (BKT);
(38) Multiple carboxylase deficiency
				  (MCD);
(39) Malonic acidemia
				  (MAL);
(40) Medium chain acyl-CoA
				  dehydrogenase deficiency (MCAD);
(41) Medium chain ketoacyl-CoA thiolase
				  deficiency (MCKAT);
(42) Short
				  chain acyl-CoA dehydrogenase deficiency (SCAD);
(43) Short chain 3-hydroxy acyl Co-A
				  dehydrogenase deficiency (SCHAD);
(44) Very long chain acyl-CoA dehydrogenase
				  deficiency (VLCAD)
(45) 3-hydroxy
				  long chain acyl-CoA dehydrogenase deficiency (LCHAD);
(46) Multiple acyl-CoA dehydrogenase (MAD) or
				  glutaric acidemia type II deficiency (GA II);
(47) Carnitine/acylcarnitine translocase
				  deficiency (translocase deficiency);
(48) Carnitine palmitoyl transferase type I
				  deficiency (CPT I);
(49) Carnitine
				  palmitoyl transferase type II deficiency (CPT II);
(50) Carnitine uptake disorder;
(51) Trifunctional protein deficiency
				  (TFP);
(52) 2,4-dienoyl-CoA
				  reductase deficiency (DE RED);
(53)
				  Cystic fibrosis;
(54) Severe
				  combined immunodeficiency (SCID);
(55) Pompe disease;
(56) Fabry disease;
(57) Spinal muscular atrophy (SMA);
				  and
(58) Mucopolysaccharidosis type
				  I (MPS I).