Disorder Fact Sheets
Newborn Blood Spot Screening
Amino Acid Disorders
Argininosuccinic aciduria (ASA)
Carnitine/acylcarnitine translocase defect (CACT)
Carnitine palmitoyl transferase deficiency
(CPT-II)
Carnitine Uptake Deficiency (CUD)*
Citrullinemia (CIT)
Congenital Adrenal Hyperplasia (CAH)
Congenital Hypothyroidism (CH)
Cystic Fibrosis (CF)
Expanded Newborn Screening
Fatty Acid Oxidation Disorders
Galactosemia
Glutaric acidemia, type I (GA-I)
Homocystinuria (HCY)
Hypermethioninemia (MET)
Isovaleric acidemia (IVA)
Maple Syrup Urine Disease (MSUD)
Medium-chain acyl-CoA dehydrogenase deficiency
(MCAD)
Methylmalonic acidemias (MUT, Cbl A,B)
Multiple acyl-CoA dehydrogenase deficiency
(GA-II)
Organic Acid Disorders
Phenyleketonuria (PKU)
Propionic acidemia (PROP)
Short-chain acyl-CoA dehydrogenase deficiency
(SCAD)
Sickle Cell and other Hemoglobinopathies
Tyrosinemias, (TYR-I, TYR-II)*
Very long-chain acyl-CoA dehydrogenase
deficiency (VLCAD)
3-Hydroxy-hexadecanoyl disorders (LCHAD,TFP)
3-Hydroxy-isovaleryl disorders (3MCC, HMG, BKT, MCD)
* There is a lower probability of detection of this disorder during the immediate newborn period.
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