Table 1.

List of Disorders on Hawai‘i Newborn Screening Panel as of November 1, 2015

Amino Acid Disorders

Arginase Deficiency

Argininosuccinate Lyase Deficiency (ASA)

Citrullinemia

Homocystinuria

Phenylketonuria (PKU)

Tyrosinemia (Types I and II)

Organic Acid Disorders

Beta-Ketothiolase Deficiency

Glutaric Acidemia (Type I)

Isobutyryl CoA Dehydrogenase Deficiency

Isovaleric Acidemia

Malonic Aciduria

Maple Syrup Urine Disease (MSUD)

Methylmalonic Acidemias

Multiple Carboxylase Deficiency (MCD)

Propionic Acidemia

2-Methyl-3-Hydroxybutyryl CoA Dehydrogenase Deficiency

2-Methylbutyryl CoA Dehydrogenase Deficiency

3-Hydroxy-3-Methylglutaryl (HMG) CoA Lyase Deficiency

3-Methylcrotonyl CoA Carboxylase Deficiency (3MCC)

3-Methylglutaconyl CoA Hydratase Deficiency

Fatty Acid Oxidation Disorders

Carnitine Uptake/Transport Defects

Glutaric Acidemia (Type II)

Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)

Medium Chain acyl-CoA Dehydrogenase Deficiency (MCAD)

Short Chain acyl-CoA Dehydrogenase Deficiency (SCAD)

Very Long Chain acyl-CoA Dehydrogenase Deficiency (VLCAD)

Other Disorders

Biotinidase Deficiency

Congenital Adrenal Hyperplasia (CAH)

Congenital Hypothyroidism

Cystic Fibrosis

Galactosemia

Hemoglobinopathies (including Sickle Cell)

Severe Combined Immunodeficiency (SCID)