Recommended Newborn Screenings

The March of Dimes recommends screening all newborns for 29 treatable conditions, which are divided into the following five categories:

Amino Acid Metabolism Disorders

These conditions (in some cases) result from a lack of the enzymes needed to break down amino acids (the building blocks of protein) or deficiencies in the enzymes that help the body rid itself of the nitrogen incorporated in amino acid molecules:

Phenylketonuria
Maple Syrup Urine Disease
Homocystinuria
Citrullinemia
Argininosuccinic Academia
Tyrosinemia Type I

Organic Acid Metabolism Disorders

These inherited disorders result from the loss of activity of an enzyme involved in the breakdown of amino acids (the building blocks of proteins) and other substances.

Isovaleric Acidemia
Glutaric Acidemia Type I
Hydroxymethylglutaric Aciduria or HMG-CoAlyase
Multiple Carboxylase Deficiency
Methylmalonic Acidemia due to mutase deficiency
Methylmalonic Acidemia, cblA and cblB forms
3-Methylcrotonyl-CoA Carboxylase Deficiency
Propionic Acidemia
Beta-Ketothiolase Deficiency

Fatty Acid Oxidation Disorders

Inherited defects of the enzymes needed to convert fat into energy trigger these conditions:

Medium-Chain acyl-CoA Dehydrogenase Deficiency
Very Long-Chain acyl-CoA Dehydrogenase Deficiency
Long-Chain 3-OH acyl-CoA Dehydrogenase Deficiency
Trifunctional Protein Deficiency
Carnitine Uptake Defect
Medium-Chain acyl-CoA Dehydrogenase Deficiency

Hemoglobinopathies

These conditions are inherited diseases of red blood cells:

Sickle Cell Anemia
Hb S/Beta-Thalassemia
Hb S/C Disease

Others

These are a mixed group of disorders that include some inherited diseases and some that are not genetic:

Congenital Hypothyroidism
Biotinidase Deficiency
Congenital Adrenal Hyperplasia
Classical Galactosemia
Hearing Loss
Cystic Fibrosis

All content here, including advice from doctors and other health professionals, should be considered as opinion only. Always seek the direct advice of your own doctor in connection with any questions or issues you may have regarding your own health or the health of others.

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