Required Disorders

There are 35 disorders included in required screening mandated by Massachusetts Department of Public Health.

Your baby will be screened for laboratory markers of the following 35 disorders, which are listed alphabetically:

  1. Argininemia [ARG]
  2. Argininosuccinic acidemia [ASA]
  3. ß-Ketothiolase deficiency [BKT]
  4. Biotinidase deficiency [BIOT]
  5. Carbamoylphosphate synthetase deficiency [CPS]
  6. Carnitine: acylcarnitine translocase deficiency [CACT]
  7. Carnitine uptake defect [CUD]
  8. Citrullinemia [CIT]
  9. Congenital adrenal hyperplasia [CAH]
  10. Congenital hypothyroidism [CH]
  11. Congenital toxoplasmosis [TOXO]
  12. Cystic fibrosis [CF]
  13. Duchenne Muscular Dystrophy [DMD]
  14. Galactosemia [GALT]
  15. Glutaric acidemia Type I [GA I]
  16. Glycogen Storage Disorder Type II aka Pompe Disease [GSD II]
  17. Hemoglobin Sickling Disorders, including but not limited to:
  • Sickle cell anemia [Hb SS];
  • Hb S/C disease [Hb SC];
  • Hb S/Beta-thalassemia [Hb S/ Beta thalassemia]
  1. Homocystinuria [HCU]
  2. 3-hydroxy-3-methyl glutaric aciduria [HMG]
  3. Isovaleric acidemia [IVA]
  4. Long-chain L-3-OH acyl-CoA dehydrogenase deficiency [LCHAD]
  5. Maple syrup disease [MSUD]
  6. Medium-chain acyl-CoA dehydrogenase deficiency [MCAD]
  7. Methylmalonic acidemia: mutase deficiency
    [MMA-MUT]
  8. Methylmalonic acidemia: cobalamin A, B [Cbl A,B]
  9. Methylmalonic acidemia: cobalamin C,D [Cbl C,D]
  10. Mucopolysaccharidosis Type I [MPS I]
  11. Ornithine transcarbamylase deficiency [OTC]
  12. Phenylketonuria (classical) [PKU]
  13. Propionic acidemia [PA]
  14. Severe Combined Immunodeficiency [SCID]
  15. Spinal Muscular Atrophy [SMA]
  16. Tyrosinemia Type I [TYR I]
  17. Very long-chain acyl-CoA dehydrogenase deficiency [VLCAD]
  18. X-linked Adrenoleukodystrophy[X-ALD]


 

By-products that may be identified by Newborn Screening

By-products of screening for Mandated Disorders include:

  1. Atypical cystic fibrosis (includes CBAVD)
  2. 2-Methyl 3-hydroxy butyric aciduria (2M3HBA)
  3. 2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG)
  4. 3-Methylcrotonyl-CoA carboxylase Deficiency (3MCC)
  5. 3-Methylglutaconic aciduria (3MGA)
  6. Becker Muscular Dystrophy (BMD) and other conditions associated with high creatine kinase
  7. Benign hyperphenylalaninemia (H-PHE)
  8. Carnitine palmitoyltransferase IA deficiency (liver) (CPT IA)
  9. Carnitine palmitoyltransferase II deficiency (CPT II)
  10. CitrullinemiaType II (CIT II)
  11. Defects of biopterin cofactor biosynthesis (BIOPT BS)
  12. Defects of biopterin cofactor regeneration (BIOPT Reg)
  13. Galactokinase deficiency (GALK)
  14. Galactose epimerase deficiency (GALE)
  15. Glutaric acidemia Type II (GAII)
  16. Hypermethioninemia (MET)
  17. Isobutyryl-CoA dehydrogenase deficiency (IBG)
  18. Klinefelter syndrome and other conditions associated with X aneuploidy (by-product of screening for X-linked disorders)
  19. Late-onset Pompe Disease
  20. Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT)
  21. Multiple carboxylase deficiency (MCD)
  22. Non-SCID primary immunodeficiencies or other conditions associated with low T cells
  23. Pseudodeficiency for the GAA enzyme associated with Pompe
  24. Pseudodeficiency for the IDUA enzyme associated with MPS I
  25. Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
  26. Trifunctional protein deficiency (TFP)
  27. Tyrosinemia Type II (TYR II)
  28. Tyrosinemia Type III (TYR III)
  29. Variant Hemoglobinopathies (Var Hb)
  30. Zellweger syndrome and other peroxisomal disorders (by-product of screening for X-ALD)
  31. Carrier status of any of the mandated conditions listed in 1-35 or of any by-products 1-30.

Disorder Groupings

Disorders included in required (mandatory) newborn screening were grouped according to the cause or treatment of the disorder and groupings are consistent with MA DPH Regulations. You or your baby’s doctor may look for disorders in the groups below.

INBORN ERRORS OF METABOLISM

  • Amino Acidopathies: [HCU, MSUD, PKU, or TYR I] Babies and patients with these disorders cannot break down one or more of the amino acids found in regular food. As their bodies cannot use regular food, they are given special food. A metabolic specialist or a biochemical geneticist usually treats these babies.
  • Fatty Acid Oxidation Disorders: [CACT, CUD, LCHAD, MCAD, VLCAD] Babies and patients with these disorders cannot use fats for production of energy. When a person with such a disorder does not eat for a while, there is a risk that important functions of their body will stop working. A metabolic specialist or a biochemical geneticist usually treats these babies.
  • Organic Acid Disorders: [BKT, Cbl A,B, Cbl C,D,GA I, HMG, IVA, MUT, PA] Babies and patients with these disorders cannot process some amino acids or fats found in regular food. This results in accumulation of toxic acids in the body. The patient is usually given special food and other treatment. These patients are usually treated by a metabolic specialist or a biochemical geneticist.
  • Storage Disorders and Leukodystrophies: [MPS I, GSD II, X-ALD] Patients with these disorders have trouble with the buildup of some substances in the body. Patients with Storage disorders are usually treated by a diverse team of specialists including those in pediatric metabolism, cardiology, genetics, and neurology. Patients with Leukodystrophies such as ALD are usually treated by a team of pediatric geneticists, neurologists, and endocrinologists.
  • Urea Cycle Disorders: [ARG, ASA, CIT, CPS, OTC] Babies and patients with these disorders are unable to remove nitrogen from their bloodstreams. These patients have high levels of toxic ammonia in their blood and need immediate help. These patients are usually treated by a metabolic specialist or a biochemical geneticist.
  • Other Disorders of Metabolism: [BIOT] and [GALT] Babies and patients with these disorders cannot process some sugars, vitamins, or other nutrients. A metabolic specialist or a biochemical geneticist typically treats these babies.

OTHER MISCELLANEOUS GENETIC DISORDERS

  • Cystic Fibrosis: [CF] Babies and patients with this genetic disorder cannot make an effective component needed for cells in the lungs and gut. Without the effective component, the lungs develop a layer of thick sticky mucus, making a home for lung infections. Likewise, mucus in the gut causes problems with absorbing food. A pulmonologist or a CF specialist at a CF Center typically treats these babies.
  • Hemoglobin Sickling Disorders, including but not limited to :[Hb SS]; [Hb SC]; [Hb S/ Beta Thalassemia] Babies and patients with these disorders have a change in their red blood (oxygen-carrying) cells that makes these cells stiff and crescent shaped (sickled) and unable to flow smoothly in the blood vessels. This makes the baby more likely to have anemia, episodes of pain, strokes, and life-threatening infections. Treatment with penicillin may prevent serious infections in early childhood. These patients are usually treated by a hematologist.
  • Immunodeficiency Disorders: [SCID] Severe Combined Immunodeficiency (SCID) is the name given to a large number of disorders that severely affect the immune system by affecting one type of immune system cell. Unless treated, babies with this disorder will die at a few months of age because they cannot fight off the usual infections that all babies get. With treatment, most babies live. Treatment for a SCID baby includes a bone-marrow transplant. This allows the baby to live because it can make T cells that untreated SCID babies cannot make. These patients are usually treated by pediatric immunologists and transplant specialists.
  • Neuromuscular Disorders: [DMD, SMA] Babies and patients with these inherited disorders have progressive loss of nerve or muscle functions that are needed to develop and maintain healthy muscles. There is a spectrum of outcomes that ranges from inability to meet developmental milestones, loss of mobility, dexterity, and early death. Patients are usually treated in a neuromuscular clinic by a pediatric neurologist, geneticist, and mobility specialists. 

OTHER CONGENITAL DISORDERS

  • Congenital Infectious Diseases: [TOXO] Currently, congenital toxoplasmosis is the only infectious disease included in screening. Babies with TOXO are infected with the parasite gondii. The infection of the baby occurs during pregnancy. An expert in infectious disease usually treats these babies.
  • Endocrinopathies: [CAH or CH] Babies and patients with these disorders cannot make one of the body’s hormones. If a baby’s body cannot make a hormone, the baby is usually given medicine containing the necessary hormone. These babies are usually treated by an endocrinologist or by a pediatrician who is working with an endocrinologist.