Physician Action Sheets for Newborn Screening

Click on one of the conditions below to view & print the associated Physician Action Sheet.

3-Methylcrotonyl-CoA carboxylase deficiency

Amino acid disorders

Biotinidase deficiency

Fatty acid oxidation disorders

Galactosemia

D/G galactosemia & other galactosemia variants

Homocystinuria

Medium chain acyl-CoA dehydrogenase deficiency (MCADD)

Maple syrup urine disease (MSUD)

Organic acid disorders

Phenylketonuria (PKU)

Tyrosinemia

Resources for Clinicians

GeneTests

National Library of Medicine's Genetics Home Reference

National Newborn Screening & Genetics Resource Center