R438-15-4. Implementation

  (1) Each newborn in the state of Utah shall submit to the Newborn Screening testing, except as provided in Section R438-15-12.

  (2) The Department of Health, after consulting with the Newborn Screening Advisory Committee, will determine the disorders on the Newborn Screening Panel, based on demonstrated effectiveness and available funding. Disorders for which the infant blood is screened are:

  (a) Biotinidase Deficiency;

  (b) Congenital Adrenal Hyperplasia;

  (c) Congenital Hypothyroidism;

  (d) Galactosemia;

  (e) Hemoglobinopathy;

  (f) Amino Acid Metabolism Disorders:

  (i) Phenylketonuria (phenylalanine hydroxylase deficiency and variants);

  (ii) Tyrosinemia type 1(fumarylacetoacetate hydrolase deficiency);

  (iii) Tyrosinemia type 2 (tyrosine amino transferase deficiency);

  (iv) Tyrosinemia type 3 (4-OH-phenylpyruvate dioxygenase deficiency);

  (v) Maple Syrup Urine Disease (branched chain ketoacid dehydrogenase deficiency);

  (vi) Homocystinuria (cystathionine beta synthase deficiency);

  (vii) Citrullinemia (arginino succinic acid synthase deficiency);

  (viii) Argininosuccinic aciduria (argininosuccinic acid lyase deficiency);

  (ix) Argininemia (arginase deficiency);

  (x) Hyperprolinemia type 2 (pyroline-5-carboxylate dehydrogenase deficiency);

  (g) Fatty Acid Oxidation Disorders:

  (i) Medium Chain Acyl CoA Dehydrogenase Deficiency;

  (ii) Very Long Chain Acyl CoA Dehydrogenase Deficiency;

  (iii) Short Chain Acyl CoA Dehydrogenase Deficiency;

  (iv) Long Chain 3-OH Acyl CoA Dehydrogenase Deficiency;

  (v) Short Chain 3-OH Acyl CoA Dehydrogenase Deficiency;

  (vi) Primary carnitine deficiency (OCTN2 carnitine transporter defect);

  (vii) Carnitine Palmitoyl Transferase I Deficiency;

  (viii) Carnitine Palmitoyl Transferase 2 Deficiency;

  (ix) Carnitine Acylcarnitine Translocase Deficiency;

  (x) Multiple Acyl CoA Dehydrogenase Deficiency;

  (h) Organic Acids Disorders:

  (i) Propionic Acidemia (propionyl CoA carboxylase deficiency);

  (ii) Methylmalonic acidemia (multiple enzymes);

  (iii) Malonic Aciduria;

  (iv) Isovaleric acidemia (isovaleryl CoA dehydrogenase deficiency);

  (v) 2-Methylbutiryl CoA dehydrogenase deficiency;

  (vi) Isobutyryl CoA dehydrogenase deficiency;

  (vii) 2-Methyl-3-OH-butyryl-CoA dehydrogenase deficiency;

  (viii) Glutaric acidemia type 1 (glutaryl CoA dehydrogenase deficiency);

  (ix) 3-Methylcrotonyl CoA carboxylase deficiency;

  (x) 3-Ketothiolase deficiency;

  (xi) 3-Hydroxy-3-methyl glutaryl CoA lyase deficiency;

  (xii) Holocarboxylase synthase (multiple carboxylases) deficiency;

  (i) Cystic Fibrosis;

  (j) Severe Combined Immunodeficiency syndrome; and

  (k) Disorders of Creatine Metabolism and

  (l) Spinal Muscular Atrophy