Maine Newborn Bloodspot Screening Program
Phone: 207-287-8188
FAX: 207-287-4743
Email: anne.watson@maine.gov
Maine Newborn Bloodspot Screening Program Website
Total number of conditions screened in this state: 57
2-methyl-3-hydroxybutyric aciduria2-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
Congenital hypothyroidism
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
Mucopolysaccharidosis
Pompe disease
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
Last Reviewed 03/01/2023
