Utah Newborn Screening

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Newborn Screening is specifically designed to reduce the morbidity and mortality of certain metabolic, endocrine, and hemotologic disorders by identifying the disorder prior to the onset of symptoms.

This allows treatment to begin before clinical symptoms of morbidity [permanent brain damage, growth retardation, sepsis, or severe anemia] or death can occur in the newborn.

METABOLIC DISORDERS:

Biotinidase deficiency: a recessive disorder of biotin metabolism
Galactosemia: a recessively inherited genetic disorder in which the individual is completely or partially incapable of normal metabolism of galactose due to a deficiency of the galactose-1-phosphate uridyltransferase enzyme
Fatty Acid Oxidation Disorders: a recessive disorder resulting from an enzyme deficiency needed for the break down of fatty acids
- Carnitine uptake/transport defects
- Multiple acyl-CoA dehydrogenase deficiency (MADD)
- Short chain acyl-CoA dehydrogenase deficiency (SCAD)
- Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
- Long chain 3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
- Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
- Carnitine-Acylcarnitine Translocase Deficience
- Carnitine Palmitoyl Transferase-1 Deficiency
Amino acid disorders: a recessive disorder resulting from an enzyme deficiency needed for amino acid metabolism or transport
- Arginase Deficiency
- Argininosuccinate lyase deficiency (ASA)
- Citrullinemia
- Homocystinuria
- Hyperphenylalanemia, including phenylketonuria
- Tyrosinemia
Organic Acid Disorders: a recessive disorder resulting from an enzyme deficiency in the intermediary metabolism of amino acids or fatty acids
- Beta-ketothiolase deficiency
- Glutaric acidemia, Type 1
- Isobutyry
- CoA dehydrogenase deficiency
- Isovaleric acidemia
- Malonic aciduria
- Maple syrup urine disease
- Methylmalonic acidemias
- Propionic acidemia
- 3-Hydroxy-3-methylglutaryl (HMG) CoA lyase deficiency
- 2-Methyl-3-hydroxybutyryl CoA dehydrogenase deficiency
- 2-Methylbutyryl CoA dehydrogenase deficiency
- Multiple carboxylase deficiency

ENDOCRINE DISORDERS:

Congenital adrenal hyperplasia (CAH): a genetic disorder in which there are defects in the enzymes of the adrenal cortex required for the biosynthesis of adrenal corticosteroids
Congenital hypothyroidism: a disorder in which the newborn is unable to secrete or produce thyroxine normally

HEMOGLOBIN DISORDERS:

Sickle cell disease and other hemoglobinopathies: a recessively inherited genetic defect of the structure of hemoglobin found in red blood cells

These are disorders which may have significant mortality and morbidity when not diagnosed presymptomatically and may not be consistently identified clinically in the neonatal period. Early detection and treatment may improve the health and development of newborns identified with these disorders.

NEWS ALERT
As of Fall 2007, the Federal Drug Administration (FDA) extended the shelf life of Newborn Screening Card filter paper from two years to three years. Miscellaneous Newborn Screening Cards that have an expiration date of December 2007 may still be used through December 2008.

	Utah Department of Health Newborn Screening Program 44 N Medical Dr PO Box 144710 Salt Lake City UT 84114-4710 newbornscreening@utah.gov
Phone: (801) 584-8256 Fax: (801) 536-0962

newbornscreening@utah.gov