<?xml version='1.0' encoding='utf-8'?>
<regulation prefix="Regulation" num=".05" citation="COMAR 10.52.12.05" title_num="10" subtitle_num="52" chapter_num="12" heading="Selection of Disorders for Screening.">
  <paragraph num="A.">
    <text>The Department, with the advice of the Council, shall select the disorders for which screening is required by the Newborn Screening Program.</text>
  </paragraph>
  <paragraph num="B.">
    <text>The selected disorders are:</text>
    <paragraph num="(1)">
      <text>Biotinidase deficiency;</text>
    </paragraph>
    <paragraph num="(2)">
      <text>Congenital adrenal hyperplasia (CAH);</text>
    </paragraph>
    <paragraph num="(3)">
      <text>Hypothyroidism;</text>
    </paragraph>
    <paragraph num="(4)">
      <text>Galactosemia, galactose-1-phosphate uridyl transferase deficiency (GALT);</text>
    </paragraph>
    <paragraph num="(5)">
      <text>Epimerase Galactosemia, uridine diphosphate-galactose-4-epimerase deficiency (GALE);</text>
    </paragraph>
    <paragraph num="(6)">
      <text>Galactokinase Galactosemia, galactokinase deficiency (GALK1);</text>
    </paragraph>
    <paragraph num="(7)">
      <text>Sickle cell disease;</text>
    </paragraph>
    <paragraph num="(8)">
      <text>Sickle cell disease: S beta-thalessemia;</text>
    </paragraph>
    <paragraph num="(9)">
      <text>Sickle C disease: SC disease;</text>
    </paragraph>
    <paragraph num="(10)">
      <text>Other hemoglobin variants;</text>
    </paragraph>
    <paragraph num="(11)">
      <text>Phenylketonuria (PKU);</text>
    </paragraph>
    <paragraph num="(12)">
      <text>Hyperphenylalaninemia (Hyper-PHE);</text>
    </paragraph>
    <paragraph num="(13)">
      <text>Biopterin cofactor biosynthesis defects (BIOPT-BS);</text>
    </paragraph>
    <paragraph num="(14)">
      <text>Biopterin cofactor regeneration defects (BIOPT-REG);</text>
    </paragraph>
    <paragraph num="(15)">
      <text>Tyrosinemia, type I;</text>
    </paragraph>
    <paragraph num="(16)">
      <text>Tyrosinemia, type II;</text>
    </paragraph>
    <paragraph num="(17)">
      <text>Tyrosinemia, type III;</text>
    </paragraph>
    <paragraph num="(18)">
      <text>Homocystinuria;</text>
    </paragraph>
    <paragraph num="(19)">
      <text>Hypermethioninemia;</text>
    </paragraph>
    <paragraph num="(20)">
      <text>Branched chain ketoaciduria (BCK), also called maple syrup urine disease (MSUD);</text>
    </paragraph>
    <paragraph num="(21)">
      <text>Citrullinemia, type I;</text>
    </paragraph>
    <paragraph num="(22)">
      <text>Citrullinemia, type II;</text>
    </paragraph>
    <paragraph num="(23)">
      <text>Arginosuccinic aciduria;</text>
    </paragraph>
    <paragraph num="(24)">
      <text>Argininemia;</text>
    </paragraph>
    <paragraph num="(25)">
      <text>Methylmalonic acidemia, mutase deficiency (MMA);</text>
    </paragraph>
    <paragraph num="(26)">
      <text>Methylmalonic acidemia, adenosylcobalamin synthesis defects A and B (Cbl A, B);</text>
    </paragraph>
    <paragraph num="(27)">
      <text>Methylmalonic acidemia, adenosylcobalamin synthesis defects C and D (Cbl C, D);</text>
    </paragraph>
    <paragraph num="(28)">
      <text>Propionic acidemia (PA);</text>
    </paragraph>
    <paragraph num="(29)">
      <text>Isovaleric acidemia (IVA);</text>
    </paragraph>
    <paragraph num="(30)">
      <text>Glutaric aciduria type I (GA I);</text>
    </paragraph>
    <paragraph num="(31)">
      <text>3-Hydroxy-3-methylglutaryl-CoA (HMG) lysase deficiency;</text>
    </paragraph>
    <paragraph num="(32)">
      <text>Isobutryl-CoA dehydrogenase (IBCD) deficiency;</text>
    </paragraph>
    <paragraph num="(33)">
      <text>2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG);</text>
    </paragraph>
    <paragraph num="(34)">
      <text>3-Methlycrotonyl-CoA carboxylase deficiency (3MCC);</text>
    </paragraph>
    <paragraph num="(35)">
      <text>3-Methlyglutaconyl-CoA hydratase deficiency (3MGA);</text>
    </paragraph>
    <paragraph num="(36)">
      <text>2-Methyl-3-hydroxybutyrl-CoA dehydrogenase deficiency (2M3HBA);</text>
    </paragraph>
    <paragraph num="(37)">
      <text>Mitochondrial acetoacetyl-CoA thiolase (3-ketothiolase) deficiency (BKT);</text>
    </paragraph>
    <paragraph num="(38)">
      <text>Multiple carboxylase deficiency (MCD);</text>
    </paragraph>
    <paragraph num="(39)">
      <text>Malonic acidemia (MAL);</text>
    </paragraph>
    <paragraph num="(40)">
      <text>Medium chain acyl-CoA dehydrogenase deficiency (MCAD);</text>
    </paragraph>
    <paragraph num="(41)">
      <text>Medium chain ketoacyl-CoA thiolase deficiency (MCKAT);</text>
    </paragraph>
    <paragraph num="(42)">
      <text>Short chain acyl-CoA dehydrogenase deficiency (SCAD);</text>
    </paragraph>
    <paragraph num="(43)">
      <text>Short chain 3-hydroxy acyl Co-A dehydrogenase deficiency (SCHAD);</text>
    </paragraph>
    <paragraph num="(44)">
      <text>Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)</text>
    </paragraph>
    <paragraph num="(45)">
      <text>3-hydroxy long chain acyl-CoA dehydrogenase deficiency (LCHAD);</text>
    </paragraph>
    <paragraph num="(46)">
      <text>Multiple acyl-CoA dehydrogenase (MAD) or glutaric acidemia type II deficiency (GA II);</text>
    </paragraph>
    <paragraph num="(47)">
      <text>Carnitine/acylcarnitine translocase deficiency (translocase deficiency);</text>
    </paragraph>
    <paragraph num="(48)">
      <text>Carnitine palmitoyl transferase type I deficiency (CPT I);</text>
    </paragraph>
    <paragraph num="(49)">
      <text>Carnitine palmitoyl transferase type II deficiency (CPT II);</text>
    </paragraph>
    <paragraph num="(50)">
      <text>Carnitine uptake disorder;</text>
    </paragraph>
    <paragraph num="(51)">
      <text>Trifunctional protein deficiency (TFP);</text>
    </paragraph>
    <paragraph num="(52)">
      <text>2,4-dienoyl-CoA reductase deficiency (DE RED);</text>
    </paragraph>
    <paragraph num="(53)">
      <text>Cystic fibrosis;</text>
    </paragraph>
    <paragraph num="(54)">
      <text>Severe combined immunodeficiency (SCID);</text>
    </paragraph>
    <paragraph num="(55)">
      <text>Pompe disease;</text>
    </paragraph>
    <paragraph num="(56)">
      <text>Fabry disease;</text>
    </paragraph>
    <paragraph num="(57)">
      <text>Spinal muscular atrophy (SMA);</text>
    </paragraph>
    <paragraph num="(58)">
      <text>Mucopolysaccharidosis type I (MPS I);</text>
    </paragraph>
    <paragraph num="(59)">
      <text>Mucopolysaccharidosis Type II (MPS II);</text>
    </paragraph>
    <paragraph num="(60)">
      <text>X-linked Adrenoleukodystrophy (X-ALD);</text>
    </paragraph>
    <paragraph num="(61)">
      <text>Guanidinoacetate Methyltransferase Deficiency (GAMT); and</text>
    </paragraph>
    <paragraph num="(62)">
      <text>Infantile Krabbe Disease.</text>
    </paragraph>
  </paragraph>
  <paragraph num="C.">
    <text>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.</text>
  </paragraph>
</regulation>