Newborn Screening in Maryland

Maryland Newborn Metabolic Screening
Phone: 443-681-3916

Maryland Newborn Metabolic Screening Website

 

Total number of conditions screened in this state: 51

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-methylcrotonyl- CoA carboxylase deficiency
Argininemia (Arginase deficiency)
Argininosuccinate aciduria
Beta ketothiolase (Mitochondrial acetyl-CoA thiolase deficiency)
Biotinidase deficiency
Carnitine acyl-carnitine translocase deficiency
Carnitine palmitoyltransferase deficiency type 1
Carnitine palmitoyltransferase deficiency type 2
Carnitine uptake deficiency
Citrullinemia
Citrullinemia
Cobalamin C deficiency
Congenital adrenal hyperplasia
Congenital hypothyroidism
Critical congenital heart disease
Cystic fibrosis
Fabry disease
Galactosemia
Glutaric acidemia
Glutaric acidemia type II
Hearing loss
Homocystinuria
Hyperphenylalaninemia
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
Methylmalonic acidemia
Methylmalonic acidemia
Mucopolysaccharidoses type I
Multiple carboxylase deficiency
Phenylketonuria
Pompe (Glycogen storage disease type II)
Propionic acidemia
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

 

Last Reviewed 03/01/2023