§ 63-1-533. Phenylketonuria, related inborn metabolic disorders and other genetic or biochemical disorders - Educational and newborn screening programs.

A.  The State Board of Health shall provide, pursuant to the provisions of Section 1-534 of this title as technologies and funds become available, an intensive educational and newborn screening program among physicians, hospitals, public health nurses, and the public concerning phenylketonuria, related inborn metabolic disorders, and other genetic or biochemical disorders for which:

1.  Newborn screening will provide early treatment and management opportunities that might not be available without screening; and

2.  Treatment and management will prevent mental retardation and/or reduce infant morbidity and mortality.

B.  This educational and newborn screening program shall include information about:

1.  The nature of the diseases;

2.  Examinations for the detection of the diseases in infancy; and

3.  Follow-up measures to prevent the morbidity and mortality resulting from these diseases.

C.  For purposes of this section, “phenylketonuria” means an inborn error of metabolism attributable to a deficiency of or a defect in phenylalanine hydroxylase, the enzyme that catalyzes the conversion of phenylalanine to tyrosine.  The deficiency permits the accumulation of phenylalanine and its metabolic products in the body fluids.  The deficiency can result in mental retardation (phenylpyruvic oligophrenia), neurologic manifestations (including hyperkinesia, epilepsy, and microcephaly), light pigmentation, and eczema.  The disorder is transmitted as an autosomal recessive trait and can be treated by administration of a diet low in phenylalanine.

D.  The State Board of Health shall promulgate any rules necessary to effectuate the provision of this section.

Added by Laws 1965, c. 252, § 1.  Amended by Laws 2002, c. 463, § 1, eff. Nov. 1, 2002; Laws 2005, c. 452, § 1, eff. Nov. 1, 2005.