This list is believed to be accurate. However, if specific questions exist, please consult the newborn screening office directly. Contact information is provided below.
Contact Information for Newborn Screening Office
Metabolic Disorders
Carbohydrate Disorders- classical galactosemia
- classical phenylketonuria (PKU)
- variant PKU
- GTPCH deficiency (biopterin deficiency)
- PTPS deficiency (biopterin deficiency)
- DHPR deficiency (biopterin deficiency)
- PH deficiency (biopterin deficiency)
- argininemia/arginase deficiency
- argininosuccinic acid lyase deficiency (ASAL deficiency)
- citrullinemia, type I / argininosuccinic acid synthetase deficiency (ASAS def.)
- citrullinemia, type II (citrin deficiency)
- gyrate atropy of the choroid and retina
- homocitrullinuria, hyperornithinemia, hyperammonemia (HHH)
- homocystinuria/cystathionine beta-synthase deficiency (CBS deficiency)
- methionine adenosyltransferase deficiency (MAT deficiency)
- maple syrup urine disease (MSUD)
- non-ketotic hyperglycinemia
- prolinemia
- tyrosinemia
- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
- 2-methylbutyryl-CoA dehydrogenase deficiency
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCoA lyase deficiency)
- 3-methylcrotonyl-CoA carboxylase deficiency (3MCC deficiency)
- 3-methylgutaconic aciduria (MGA), type I (3-methylglutaconyl-CoA hydratase deficiency)
- 5-oxoprolinuria
- beta-ketothiolase deficiency (BKT)
- biotinidase deficiency, profound type (BD)
- ethylmalonic encephalopathy (EE)
- glutaric acidemia, type 1 (GA-1)
- isobutyryl-CoA dehydrogenase deficiency
- isovaleric acid acidemia (IVA)
- malonic aciduria
- methylmalonic acidemia, mut -
- methylmalonic acidemia, mut 0
- methylmalonic acidemia (Cbl A,B)
- methylmalonic acidemia (Cbl C,D)
- multiple carboxylase deficiency (MCD)
- propionic acidemia (PA)
- carnitine transporter deficiency
- carnitine-acylcarnitine translocase deficiency (CAT deficiency)
- carnitine palmitoyl transferase deficiency - type 1 (CPT-1 deficiency)
- carnitine palmitoyl transferase deficiency - type 2 (CPT-2 deficiency)
- long chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD deficiency)
- medium chain acyl-CoA dehydrogenase deficiency (MCAD deficiency)
- multiple acyl-CoA dehydrogenase deficiency (MAD deficiency) / glutaric acidemia type 2 (GA-2)
- short chain acyl-CoA dehydrogenase deficiency (SCAD deficiency)
- trifunctional protein deficiency (TFP deficiency)
- very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency)
Endocrine disorders
- primary congenital hypothyroidism
- variant hypothyroidism
- congenital adrenal hyperplasia - salt wasting (21-hydroxylase deficiency)
- congenital adrenal hyperplasia - simple virilizing (21-hydroxylase deficiency)
Hemoglobin disorders
- sickle cell anemia (Hb SS disease)
- sickle C disease (Hb SC disease)
- sickle D disease (Hb SD disease)
- sickle E disease (Hb SE disease)
- Hb S/hereditary persistence of fetal hemoglobin (Hb S/HPFH)
- sickle cell disease variant (other sickle cell disease, Hb SV)
- Hb S/Beta0 thalassemia
- Hb S/Beta+ thalassemia
- Hb C disease (Hb CC)
- Hb D disease (Hb DD)
- alpha thalassemia major
- Hb H disease
- Hb H/Constant Spring disease
- beta thalassemia major
- Hb E/Beta0 thalassemia
- Hb E/Beta+ thalassemia
- Hb E/Delta Beta thalassemia
- Hb C/Beta0 thalassemia
- Hb C/Beta+ thalassemia
- Hb D/Beta0 thalassemia
- Hb D/Beta+ thalassemia
- Hb Variant/Beta0 thalassemia
- Hb Variant/Beta+ thalassemia
- other hemoglobinopathies (Hb variants)
- cystic fibrosis (CF)
Contact information
Office of Newborn Screening at Stanford 650-812-0353
Dept of Health Services, Newborn Screening 510-412-1502
California Newborn Screen Web Site
JAby 7-07
