Newborn Screening- all uses

***I know that the book and class talks about Newborn Screening for hearing loss, but just a quick look at what all babies are screened for as soon as they're born.****

What conditions are screened for in Kentucky?

Don't see a condition in this list?

Not all states screen for the same conditions.  Check with your state department of health for the latest list of conditions screened.

Learn more about why states are different and your additional screening options.

Amino Acid Disorders

• Argininemia (ARG)
• Argininosuccinic aciduria (ASA)
• Benign hyperphenylalaninemia (H-PHE)
  State preferred name: hyperphenylalaninemia
• Citrullinemia, type I (CIT)
• Citrullinemia, type II (CIT II)

• Classic phenylketonuria (PKU) --  This is what I have. I was screened 3 times within the first month to make sure it was positive. WIth this condidtion, it is imparative you discover it early or it will result in mental retardation within the first 6 months. 
  

  • State preferred name: phenylketonuria

  • Homocystinuria (HCY)

  • Hypermethioninemia (MET)

  Nonketotic hyperglycinemia (NKH)
  Tyrosinemia, type I (TYR I)
  Tyrosinemia, type II (TYR II)
  Tyrosinemia, type III (TYR III)
  Maple syrup urine disease (MSUD)

Endocrine Disorders

• Congenital adrenal hyperplasia (CAH)
• Primary congenital hypothyroidism (CH)

Fatty Acid Oxidation Disorders

• Carnitine acylcarnitine translocase deficiency (CACT)
• Carnitine palmitoyltransferase I deficiency (CPT-IA)
• Carnitine palmitoyltransferase type II deficiency (CPT-II)
• Carnitine uptake defect (CUD)
• Glutaric acidemia, type II (GA-2)
• Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
  State preferred name: long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
• Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
• Trifunctional protein deficiency (TFP)
• Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

Hemoglobin Disorders

• Hemoglobinopathies (Var Hb)
• S, Beta-thalassemia (Hb S/ßTh)
  State preferred name: sickle cell-beta thalassemia
• S, C disease (Hb S/C)
  State preferred name: sickle cell hemoglobin C disease
• Sickle cell anemia (Hb SS)
  State preferred name: sickle cell disease

Organic Acid Conditions

• 2-Methyl-3-hydroxybutyric acidemia (2M3HBA)
• 2-Methylbutyrylglycinuria (2MBG)
• 3-Hydroxy-3-methylglutaric aciduria (HMG)
• 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)
• 3-Methylglutaconic aciduria (3MGA)
• Beta-ketothiolase deficiency (BKT)
• Ethylmalonic encephalopathy (EME)
• Glutaric acidemia type I (GA1)
• Holocarboxylase synthetase deficiency (MCD)
  State preferred name: multiple carboxylase deficiency
• Isobutyrylglycinuria (IBG)
  State preferred name: isobutyryl-CoA dehydrogenase deficiency
• Isovaleric acidemia (IVA)
• Malonic acidemia (MAL)
• Methylmalonic acidemia (cobalamin disorders) (Cbl A,B)
  State preferred name: Cobalamin A,B
• Methylmalonic acidemia (methymalonyl-CoA mutase deficiency) (MUT)
  State preferred name: methylmalonic acidemia (mutase deficiency)
• Methylmalonic acidemia with homocystinuria (Cbl C, D, F)
• Propionic acidemia (PROP)
  State preferred name: PA

Other Disorders

• Biotinidase deficiency (BIOT)
• Classic galactosemia (GALT)
• Cystic fibrosis (CF)
• Hearing loss (HEAR)