Maine | Newborn Screening

State Newborn Screening Panel

2-methyl-3-hydroxybutyric aciduria
2-methylbutyrylglycinuria
3-hydroxy-3-methyglutaric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
Argininemia
Argininosuccinic aciduria
B-ketothiolase deficiency
Benign hyperphenylalaninemia
Biopterin defect in cofactor biosynthesis
Biopterin defect in cofactor regeneration
Biotinidase deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyltransferase type I deficiency
Carnitine palmitoyltransferase type II deficiency
Carnitine uptake defect/carnitine transport defect
Citrullinemia type I
Citrullinemia, type II
Classic galactosemia
Classic phenylketonuria
Congenital adrenal hyperplasia
Critical congenital heart disease
Cystic fibrosis
Galactoepimerase deficiency
Galactokinase deficiency
Glutaric acidemia type I
Glutaric acidemia type II
Hearing loss
Holocarboxylase synthase deficiency
Homocystinuria
Hypermethioninemia
Isobutyrylglycinuria
Isovaleric acidemia
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
Maple syrup urine disease
Medium-chain acyl-CoA dehydrogenase deficiency
Medium-chain ketoacyl-CoA thiolase deficiency
Methylmalonic acidemia
Methylmalonic acidemia cobalamin A, B
Methylmalonic acidemia with homocystinuria (Cbl C,D)
Mucopolysaccharidosis
Pompe disease
Primary congenital hypothyroidism
Propionic acidemia
S,C disease
S,S disease (sickle cell anemia)
S/Beta-thalassemia
Severe combined immunodeficiencies
Spinal muscular atrophy
T-cell related lymphocyte deficiencies
Trifunctional protein deficiency
Tyrosinemia type I
Tyrosinemia, type II
Tyrosinemia, type III
Various other hemoglobinopathies
Very long-chain acyl-CoA dehydrogenase deficiency
X-linked adrenoleukodystrophy

Contacts and Support

State Newborn Screening Program

Maine Newborn Bloodspot Screening Program

Phone: 207-287-5357

FAX: 207-287-4743

Email: naomi.montag@maine.gov

Maine Newborn Bloodspot Screening Program

Early Hearing Detection and Intervention

Maine EHDI Program

Phone: 207-287-5357

FAX: 207-287-4743

Email: naomi.montag@maine.gov

Maine EHDI Program Website

Critical Congenital Heart Disease Screening

Maine CCHDS Program

Phone: 207-287-5357

FAX: 207-287-4743

Email: naomi.montag@maine.gov

Additional Resources

For a listing of general support, advocacy, and informational resources for Newborn Screening, visit the Resources page.

Date Last Reviewed:

June 2026