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Disorder Fact Sheets

Newborn Blood Spot Screening

pdf file Amino Acid Disorders

pdf file Argininosuccinic aciduria (ASA)

pdf file Carnitine/acylcarnitine translocase defect (CACT)

pdf file Carnitine palmitoyl transferase deficiency (CPT-II)

pdf fileCarnitine Uptake Deficiency (CUD)*

pdf file Citrullinemia (CIT)

pdf file Congenital Adrenal Hyperplasia (CAH)

pdf file Congenital Hypothyroidism (CH)

pdf file Cystic Fibrosis (CF)

pdf file Expanded Newborn Screening

pdf file Fatty Acid Oxidation Disorders

pdf file Galactosemia

pdf file Glutaric acidemia, type I (GA-I)

pdf file Homocystinuria (HCY)

pdf file Hypermethioninemia (MET)

pdf file Isovaleric acidemia (IVA)

pdf file Maple Syrup Urine Disease (MSUD)

pdf file Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

pdf file Methylmalonic acidemias (MUT, Cbl A,B)

pdf file Multiple acyl-CoA dehydrogenase deficiency (GA-II)

pdf file Organic Acid Disorders

pdf file Phenyleketonuria (PKU)

pdf file Propionic acidemia (PROP)

pdf file Short-chain acyl-CoA dehydrogenase deficiency (SCAD)

pdf file Sickle Cell and other Hemoglobinopathies

pdf file Tyrosinemias, (TYR-I, TYR-II)*

pdf file Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

pdf file 3-Hydroxy-hexadecanoyl disorders (LCHAD,TFP)

pdf file 3-Hydroxy-isovaleryl disorders (3MCC, HMG, BKT, MCD)

 

* There is a lower probability of detection of this disorder during the immediate newborn period.