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MPHL : nbs_about

DHMH Laboratories Administration Newborn and Childhood Screening Division:

This Division offers hereditary disorders testing to every baby born in Maryland. Testing is offered for:

  • PKU (phenylketonuria)
  • MSUD (maple syrup urine disease)
  • Homocystinuria
  • Tyrosinemia
  • Argininemia
  • Citrulinemia
  • Arginosuccinic Aciduria
  • Galactosemia
  • Biotinidase Deficiency
  • Congenital Hypothyroidism
  • Congenital Adrenal Hyperplasia
  • Sickle cell anemia and other Hemoglobinopathies


  • 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG CoA Lyase Deficiency)
  • Glutaric Acidemia Type I (GA I)
  • Isobutyryl-CoA Dehydrogenase Deficiency
  • Isovaleric Acidemia (IVA)
  • 2-Methylbutyryl-CoA Dehydrogenase Deficiency
  • 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC Deficiency)
  • 3-Methylglutaconyl-CoA Hydratase Deficiency
  • Methylmalonic Acidemia (MMA)
  • Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (3-Ketothiolase Deficiency)
  • Propionic Acidemia (PA or PPA)
  • Multiple Carboxylase Deficiency
  • Carnitine/Acylcarnitine Translocase Deficiency (Translocase Deficiency)
  • Long Chain 3-Hydroxyacyl-CoA Dehyhrogenase Deficiency (LCHAD Deficiency)
  • Medium Chain Acyl Co-A Dehyhrogenase Deficiency (MCAD Deficiency)
  • Multiple Acyl Co-A Dehydrogenase Deficiency (MADD Deficiency or Glutaric Acidemia Type II or GA II)
  • Carnitine Palmitoyl Trasferase II Deficiency (CPT II Deficiency)
  • Short Chain Acyl-Co-A Dehydrogenase Deficiency (SCAD Deficiency)
  • Short Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (SCHAD Deficiency)
  • Very Long Chain Acyl-CoA Dehyhrogenase Deficiency (VLCAD Deficiency)
  • Cystic fibrosis



Newborn Screening Follow Up Unit


Tandem Mass Spectrometry: 410-767-6099


Endocrinology : 410-767-6170


Hemoglobinopathy/ Biochemical