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Newborn Screening Program Disorders
Printable Page | ACT Information Sheets

Utah newborns are screened for the following disorders:

EXOCRINE DISORDERS

Cystic Fibrosis
A recessively inherited genetic disorder resulting from a protein deficiency that disrupts the epithelial cells. More...

METABOLIC DISORDERS

Biotinidase Deficiency
A recessive disorder of biotin metabolism. More...

Galactosemia
A recessively inherited genetic disorder in which the individual is completely or partially incapable of normal metabolism of galactose due to an enzyme deficiency. More...

Organic Acid Disorders
Recessive disorders resulting from an enzyme deficiency in the intermediary metabolism of amino acids or fatty acids. More...

Amino Acid Disorders
Recessive disorders resulting from an enzyme deficiency needed for amino acid metabolism or transport. More...

Fatty Acid Oxidation Disorders
Recessive disorders resulting from an enzyme deficiency needed for the break down of fatty acids. More...

ENDOCRINE DISORDERS

Congenital Adrenal Hyperplasia
A genetic disorder in which there are defects in the enzymes of the adrenal cortex required for steroid production. More...

Congenital Hypothyroidism
A disorder in which the newborn is unable to secrete or produce thyroxine normally. More...

HEMOGLOBIN DISORDERS

Sickle Cell Disease and Other Hemoglobinopathies
Recessively inherited genetic defects of the structure of hemoglobin (Hb) found in red blood cells. More...

SCID

Severe Combined Immunodeficiency disorder (Information)
Severe Combined Immunodeficiency (SCID) includes a group of rare but serious, and potentially fatal, inherited immune disorders in which T lymphocytes fail to develop and B lymphocytes are either absent or compromised. (Bubble Boy Disease). More...

 

These are disorders that may have significant mortality and morbidity when not diagnosed pre-symptomatically 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.