Diseases and Disorders Included in Newborn Blood Screening

(A) Mandated Newborn Blood Screening. The following diseases and disorders shall be included in mandated newborn screening: (1) Inborn Errors of Metabolism. (a) Amino Acid Disorders: 1. Homocystinuria (HCY); 2. Maple Syrup Urine Disease (MSUD); 3. Phenylketonuria (PKU); 4. Tyrosinemia, Type I (TYR I). (b) Fatty Acid Oxidation Disorders: 1. Carnitine-Acylcarnitine Translocase Deficiency (CACT); 2. Carnitine Uptake Defect (CUD); 3. Long-chain L-3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD); 4. Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCAD); 5. Very long-chain Acyl-CoA Dehydrogenase Deficiency (VLCAD). (c) Organic Acidemias: 1. Beta-Ketothiolase Deficiency (BKT); 2. Glutaric Acidemia type I (GAI); 3. 3-Hydroxy-3-Methylglutaric Aciduria (HMG); 4. Isovaleric Acidemia (IVA); 5. Methylmalonic Acidemia: methylmalonyl CoA mutase deficiency (MUT); 6. Methylmalonic Acidemia: cobalamin A, B (Cbl A,B); 7. Methylmalonic Acidemia: cobalamin C, D (Cbl C,D); 8. Propionic Acidemia (PA). 105 CMR - 1283 270.006: continued (d) Urea Cycle Disorders: 1. Argininemia (ARG) aka Arginase Deficiency; 2. Argininosuccinic Aciduria (ASA) aka Argininosuccinate Lyase Deficiency; 3. Carbamylphosphate Synthetase Deficiency (CPS); 4. Citrullinemia, Type I aka Argininosuccinate Synthetase Deficiency (CIT-I); 5. Ornithine Transcarbamylase Deficiency (OTC). (e) Storage Disorders and Leukodystrophies: 1. Glycogen Storage Disorder-II (GSD-II aka Pompe); 2. Krabbe disease (globoid cell leukodystrophy) (KD) (for specimens received on or after January 1, 2027); 3. Mucopolysaccharidosis type 1 (MPS-I); 4. X-linked adrenoleukodystrophy (X-ALD); 5. Metachromatic leukodystrophy (MLD) (for specimens received on or after July 1, 2027); (f) Other Disorders of Metabolism: 1. Biotinadase Deficiency (BTD); 2. Galactosemia Classical (GALT); 3. Guanidinoacetate methyltransferase (GAMT) (for specimens received on or after January 1, 2027). (2) Other Genetic Disorders: (a) Hemoglobin Sickling Disorders including but not limited to: 1. Sickle cell anemia (Hb SS); 2. Hb S/C disease (Hb SC); 3. Hb S/Beta -thalassemia (Hb S/BetaThalassemia). (b) Cystic Fibrosis (CF); (c) Severe Combined Immunodeficiency (SCID). (d) Neuromuscular Disorders: 1. Duchenne Muscular Dystrophy (DMD) 2. Spinal Muscular Atrophy (SMA) (3) Other Congenital Disorders: (a) Endocrinopathies: 1. Congenital Adrenal Hyperplasia (CAH); 2. Congenital hypothyroidism (CH) (b) Infectious Diseases: 1.Congenital Toxoplasmosis (TOXO) (B) Pilot Studies. The Newborn Blood Screening Program shall identify and maintain a list of diseases and disorders that shall be included in the Optional Newborn Blood Screening as Pilot Studies. A current list of diseases and conditions available for optional screening shall be included in the Newborn Screening in Massachusetts brochure provided to parents and guardians and shall be maintained on the web page for the New England Newborn Screening Program (C) By-product Conditions. Due to the technology used for some screening tests, and tests used to confirm results, and/or the physiology associated with the disorders being tested for, some conditions not listed in 105 CMR 270.006(A) or offered as Pilot Studies pursuant to 105 CMR 270.006(B) may be identified during the screening process. These by-product conditions do not currently meet the criteria for mandated screening or pilot studies. These by-product conditions are listed in the Newborn Blood Screening in Massachusetts brochure provided to parents and guardians and are maintained on the web page for the Newborn Blood Screening Program. 105 CMR - 1284