Maryland | Newborn Screening

State Newborn Screening Panel

2,4-dienoyl-CoA reductase
2- methylbutyryl-CoA dehydrogenase def.
2-methyl-3hydroxybutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-CoA carboxylase deficiency
3-hydroxy-3methylglutaric aciduria
3-methylglutaconic aciduria
Argininemia
Argininosuccinate aciduria
Benign hyperphenylalaninemia
Beta ketothiolase (Mitochondrial acetyl-CoA thiolase deficiency)
Biopterin defect in cofactor biosynthesis
Biopterin defect in cofactor regeneration
Biotinidase deficiency
Carnitine acyl-carnitine translocase deficiency
Carnitine palmitoyltransferase deficiency type 1
Carnitine palmitoyltransferase deficiency type 2
Carnitine uptake deficiency
Citrullinemia, type I
Citrullinemia, type II
Cobalamin C deficiency
Congenital adrenal hyperplasia
Congenital hypothyroidism
Critical congenital heart disease
Cystic fibrosis
Ethylmalonic encephalopathy
Fabry disease
Galactosemia
Glutaric acidemia
Glutaric acidemia type II
Hearing loss
Hemoglobinopathies
Holocarboxylase synthetase deficiency
Homocystinuria
Hypermethioninemia
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Malonic acidemia
Maple syrup urine disease (Branched-chain ketoacid dehydrogenase deficiency)
Medium chain acyl-CoA dehydrogenase deficiency
Medium-chain ketoacyl-CoA thiolase deficiency
Methylmalonic acidemia (cobalamin disorders)
Methylmalonic acidemia (methylmalonyl-CoA mutase deficiency)
Mucopolysaccharidoses type I
Multiple carboxylase deficiency
Phenylketonuria
Pompe (Glycogen storage disease type II)
Propionic acidemia
S, Beta-Thalassemia
S,C disease
Severe combined immune deficiency
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Short chain acyl-CoA dehydrogenase deficiency
Sickle cell anemia
Spinal muscular atrophy
Trifunctional protein deficiency
Tyrosinemia type I
Tyrosinemia type II
Tyrosinemia type III
Very long chain acyl-CoA dehydrogenase
Very long-chain acyl-CoA dehydrogenase deficiency
X-linked adrenoleukodystrophy

In this state, babies undergo a second screening step when they are around two weeks old. This second screening usually happens in a health care provider’s office. It can help find babies who have conditions that are hard to detect in the first days of life but that still benefit from early treatment or intervention.

Contacts and Support

State Newborn Screening Program

Maryland Newborn Metabolic Screening

Phone: 443-681-3916

Maryland Newborn Metabolic Screening Website

Early Hearing Detection and Intervention

Maryland EHDI Program

Phone: 800-633-1316

Maryland EHDI Program Website

Additional Resources

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

Date Last Reviewed:

September 2024