HAR §11-143-3. specimen collection and submission of specimens for newborn screening laboratory tests

"Maple syrup urine disease" means a recessively inherited disease which is characterized by an inability to metabolize the branched chain amino acids, leucine, isoleucine, and valine. "Mucopolysaccharidosis Type I" means a recessively inherited lysosomal storage disease which is characterized by an inability to metabolize large glycosaminoglycan molecules into smaller usable forms. These large molecules accumulate in the cells and lead to cell damage and without treatment can lead to death. "Negative" means a laboratory result on an acceptable specimen which is designated as having insufficient risk for disease to justify follow-up action. "Newborn screening specimen" means a fluid or tissue collected from the newborn to be submitted for newborn screening tests. "Newborn screening test" means a laboratory procedure performed on newborns to detect those at sufficiently increased risk for the diseases specified in section 11-143-4 to justify follow-up action. "Organic acid disorders" means a group of hereditary disorders caused by enzymatic defects which result in a toxic accumulation of certain organic acids in the blood. "Phenotype" means an observable or measurable expression of a gene or genes. "Phenylketonuria" means an inborn error of amino acid metabolism, resulting in an inability to convert phenylalanine to tyrosine. "Pompe" means a recessively inherited lysosomal storage disease characterized by the inability to break down a complex sugar (glycogen) into a simple sugar (glucose). The buildup of glycogen in various organ cells results in permanent, progressive cellular damage. "Positive" means a laboratory result on an acceptable specimen which is designated as having high risk for disease to justify follow-up action. 143-4 3553