Below is a table summarizing 29 disorders for which ACMG recommends newborns be screened.

The table is adapted from ACMG Newborn Screening ACT Sheets and Confirmatory Algorithms. Click here for the complete table and links to Action (ACT) sheets and algorithms provided by ACMG for use by health professionals in the follow-up of positive screening results.

Type of disorder	Disorder
Endocrine disorders	Primary congenital hypothyroidism (CH)
	Congenital adrenal hyperplasia (CAH)
Hemoglobinopathies	Sickle cell anemia (HbSS or HbSߺ Thalassemia)
	Hemoglobin SC disease (HbSC)
	Hemoglobin S/beta Thalassemia (HbSß+)
Genetic disorders	Biotinidase deficiency
	Cystic Fibrosis (CF)
	Hearing Loss
Metabolic: Galactosemias	Classical galactosemia
Metabolic: Fatty acid oxidation disorders	Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
	Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
	Long-chain 3-OH acyl-CoA dehydrogenase deficiency (LCHAD)
	Trifunctional protein deficiency (TFP)
	Carnitine uptake deficiency (CUD)
Metabolic: Organic acidemias	Isovaleric acidemia (IVA)
	Glutaric acidemia 1 (GA 1)
	HMG-CoA lyase deficiency
	Multiple carboxylase deficiency (MCD)
	Methylmalonic acidemia due to mutase deficiency (MUT)
	Methylmalonic acidemia cblA and cblB
	Methylcrotonyl-CoA carboxylase deficiency (3MCC)
	Beta-ketothiolase deficiency (BKT)
	Propionic acidemia (PROP)
Metabolic: Amino acid acidemias	Phenylketonuria (PKU)
	Maple syrup urine disease (MSUD)
	Homocystinuria
	Citrullinemia
	Argininosuccinic acidemia (ASA)
	Tyrosinemia I

This article last reviewed on March 16, 2008.

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