Routine Disorders

List of disorders included in ROUTINE SCREENING mandated by MA DPH:

Your baby will be screened for laboratory markers of the following 30 disorders:

  1. Argininemia (ARG)
  2. Argininosuccinic acidemia (ASA)
  3. β-Ketothiolase deficiency (BKT)
  4. Biotinidase deficiency (BIOT)
  5. Carbamoylphosphate synthetase deficiency (CPS)
  6. Carnitine uptake defect (CUD)
  7. Citrullinemia (CIT)
  8. Congenital adrenal hyperplasia (CAH)
  9. Congenital hypothyroidism (CH)
  10. Congenital toxoplasmosis (TOXO)
  11. Cystic fibrosis (CF)
  12. Galactosemia (GALT)
  13. Glutaric acidemia type I (GAI)
  14. Homocystinuria (HCY)
  15. 3-hydroxy-3-methyl glutaric aciduria (HMG)
  16. Isovaleric acidemia (IVA)
  17. Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHAD)
  18. Maple syrup disease (MSUD)
  19. Ornithine transcarbamylase deficiency (OTC)
  20. Phenylketonuria (PKU)
  21. Sickle cell anemia (Hb SS)
  22. Hb S/C disease (Hb SC)
  23. Hb S/β-thalassemia (Hb S/βTh)
  24. Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
  25. Methylmalonic acidemia: mutase deficiency (MUT)
  26. Methylmalonic acidemia: cobalamin A, B (Cbl A,B)
  27. Methylmalonic acidemia: cobalamin C,D (Cbl C,D)
  28. Propionic acidemia (PROP)
  29. Tyrosinemia type I (TYR I)
  30. Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

Screening for these 30 disorders may show information about the following disorders and conditions (by-products of mandatory screening):

  • Atypical cystic fibrosis (includes CBAVD)
  • 2-Methyl 3-hydroxy butyric aciduria (2M3HBA)
  • 2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG)
  • 3-Methylcrotonyl-CoA carboxylase Deficiency (3MCC)
  • 3-Methylglutaconic aciduria (3MGA)
  • Benign hyperphenylalaninemia (H-PHE)
  • Carnitine palmitoyltransferase IA deficiency (liver) (CPT IA)
  • Citrullinemia type II (CIT II)
  • Defects of biopterin cofactor biosynthesis (BIOPT BS)
  • Defects of biopterin cofactor regeneration (BIOPT Reg)
  • Galactokinase deficiency (GALK)
  • Galactose epimerase deficiency (GALE)
  • Glutaric acidemia type II (GA2)
  • Hypermethioninemia (MET)
  • Isobutyryl-CoA dehydrogenase deficiency (IBG)
  • Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT)
  • Multiple carboxylase deficiency (MCD)
  • Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
  • Trifunctional protein deficiency (TFP)
  • Tyrosinemia type II (TYR II)
  • Tyrosinemia type III (TYR III)
  • Variant Hb-pathies (Var Hb)
  • Carrier status of any of the conditions listed above.

Disorders included in routine newborn screening can be grouped according to the cause or treatment of the disorder.

AMINO ACIDOPATHIES: Babies and patients with these disorders cannot use regular food because their bodies cannot break down one of the amino acids found in regular food. They are given special food. A metabolic specialist or a biochemical geneticist usually treats these babies.

CONGENITAL INFECTIOUS DISEASES: Babies with these disorders are infected with a kind of bacteria, virus or parasite. The infection of the baby can occur during pregnancy or at birth. An expert in infectious disease usually treats these babies.

CYSTIC FIBROSIS (CF): Babies and patients with this disorder develop thick sticky mucus in their lungs and other organs. The mucus clogs the lungs, making a home for lung infections. Mucus in the digestive system causes problems with absorbing food. A pulmonologists or a CF specialist at a CF Center usually treats these babies

ENDOCRINOPATHIES: 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 needs help and is usually given medicine containing the hormone. These babies are usually treated by an endocrinologist or by a pediatrician who is working with an endocrinologist.

ENZYME DEFICIENCIES FOR VITAMINS AND SUGARS: Babies and patients with these disorders cannot process some sugars, vitamins or other nutrients. A metabolic specialist or a biochemical geneticist usually treats these babies.

FATTY ACID OXIDATION DISORDERS: Babies and patients with these disorders cannot use the fats that they have stored in their body for emergency 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.

HEMOGLOBINOPATHIES: Babies and patients with these disorders have a change in their red blood cells that causes problems such as sickle cell disease. It means the baby is 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.

ORGANIC ACID DISORDERS: Babies and patients with these disorders cannot use the part of regular food called branched chain amino acids or lysine. The patient needs help and is usually given special food and other treatment. These patients are usually treated by a metabolic specialist or a biochemical geneticist.

UREA CYCLE DISORDERS: 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.