Newborn Screening Program Disorders
(PDF)
Utah newborns are screened for the following disorders:
EXOCRINE DISORDER
Cystic Fibrosis (Newsletter)
A recessively inherited genetic disorder resulting from a protein deficiency that disrupts the epithelial cells.
METABOLIC DISORDERS
Biotinidase Deficiency (Newsletter)
A recessive disorder of biotin metabolism.
Galactosemia (Newsletter)
A recessively inherited genetic disorder in which the individual is completely or partially incapable of normal metabolism of galactose due to an enzyme deficiency.
Organic Acid Disorders (Newsletter)
Recessive disorders resulting from an enzyme deficiency in the intermediary metabolism of amino acids or fatty acids.
Amino Acid Disorders (Newsletter)
Recessive disorders resulting from an enzyme deficiency needed for amino acid metabolism or transport.
- Phenylketonuria - PKU (More)
Fatty Acid Oxidation Disorders (Newsletter)
Recessive disorders resulting from an enzyme deficiency needed for the break down of fatty acids.
ENDOCRINE DISORDERS
Congenital Adrenal Hyperplasia (Newsletter | Fact Sheet)
A genetic disorder in which there are defects in the enzymes of the adrenal cortex required for steroid production.
Congenital Hypothyroidism (Newsletter | Fact Sheet)
A disorder in which the newborn is unable to secrete or produce thyroxine normally.
HEMOGLOBIN DISORDERS
Sickle Cell Disease and Other Hemoglobinopathies
(Newsletter 1st Edition | Newsletter 2nd Edition | Newsletter 3rd Edition)
Recessively inherited genetic defects of the structure of hemoglobin (Hb) found in red blood cells.
Carriers
Diseases
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. |
