This list is believed to be accurate. However, if specific questions exist, please consult the newborn screening office directly. Contact information is provided below.
Metabolic Disorders
Endocrine Disorders
Hemoglobin Disorders
Other Disorders
Contact Information for Newborn Screening Office
Metabolic Disorders Carbohydrate Disorders
Amino Acid Disorders
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
Organic Acid Disorders
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)
Fatty Acid Oxidation Disorders
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)
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Endocrine disorders
primary congenital hypothyroidism
variant hypothyroidism
congenital adrenal hyperplasia - salt wasting (21-hydroxylase deficiency)
congenital adrenal hyperplasia - simple virilizing (21-hydroxylase deficiency)
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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)
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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
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