# COMAR Title 10 — Maryland Department of Health

## Subtitle 52 — Preventive Medicine

### Chapter 12 — Newborn Screening

#### Regulation .05 Selection of Disorders for Screening.

*COMAR 10.52.12.05*

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);

  (58) Mucopolysaccharidosis type I (MPS I);

  (59) Mucopolysaccharidosis Type II (MPS II);

  (60) X-linked Adrenoleukodystrophy (X-ALD);

  (61) Guanidinoacetate Methyltransferase Deficiency (GAMT); and

  (62) Infantile Krabbe Disease.

C. Supplemental Tests. The State’s Newborn Screening Program may not request or perform a supplemental test until the public health laboratory has confirmed there is sufficient blood-spot specimen to test for the required panel of disorders set forth in
                §B of this regulation.