Ala. Admin. Code r. 420-10-1-.02
Definitions
Effective Feb 13, 2022Filed December 21, 1987. Amended: Filed September 21, 1992; effective October 26, 1992. Amended: Filed September 18, 2002; effective October 23, 2002. Repealed and New Rule: Filed December 17, 2003; effective January 21, 2004. Amended: Filed December 17, 2007; effective January 21, 2008. Amended: Filed May 17, 2013; effective June 21, 2013. Amended: Filed January 19, 2017; effective March 5, 2017. Amended: Filed July 19, 2018; effective September 2, 2018. Amended: Published December 30, 2021; effective February 13, 2022.Alabama Department of Public Health
- (a) Phenylketonuria - A congenital disease due to a deficit in the metabolism of the amino acid phenylalanine.
- (b) Hypothyroidism - A deficiency of thyroid gland activity with underproduction of thyroxin or the condition resulting from it.
- (c) Hemoglobinopathy - Any hemoglobin phenotype which is other than AA.
- (d) Physician of Record - The physician who requests the test.
- (e) Galactosemia - An inherited error in the metabolism of galactose.
- (f) Congenital adrenal hyperplasia - an inherited error in steroid biosynthesis.
- (g) Hearing loss - the total or partial inability to hear sound in one or both ears.
- (h) Biotinidase deficiency – inherited deficiency caused by the lack of an enzyme involved in biotin synthesis.
- (i) Amino acid disorders B inherited disorders in amino acid metabolism.
- (j) Fatty acid oxidation disorders B inherited disorders in fatty acid metabolism.
- (k) Organic acid disorders B inherited disorders in organic acid metabolism.
- (l) Cystic Fibrosis – inherited disorder caused by a defective protein (cystic fibrosis transmembrane regulator, CFTR) involved in the salt balance of the body
- (m) Critical Congenital Heart Disease (CCHD) – a subset of congenital heart defects characterized by a diminished availability of oxygen to the body tissues that causes severe and life-threatening symptoms and requires intervention within the first days or first year of life.
- (n) Severe Combined Immunodeficiency (SCID) and Related T-Cell Lymphocyte Deficiencies – a group of rare inherited immune disorders in which T lymphocytes are either absent or compromised.
- (o) Licensed Midwife – a practitioner who holds a certified professional midwife credential and is licensed by the Alabama State Board of Midwifery to practice midwifery.
- (p) Spinal Muscular Atrophy (SMA) – a rare genetic disorder caused by spinal motor neuron gene change.
- (q) X-Linked Adrenoleukodystrophy (X-ALD) – a genetic disease that affects the nervous system and the adrenal glands.
- (r) Lysosomal Storage Disorders – inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies.
Author: P. Scott Harris, M.D., Thomas M. Miller, M.D.; William J. Callan, Ph.D.; Sharon P. Massingale, Ph.D., Aretha M. Williams, PhD., Lucinda G. Ashley, R.N. – B.C.; Rachael N. Montgomery, B.S.N., R.N.
Statutory Authority: Code of Ala. 1975, §§22-2-2, 22-20-3.
History: Filed December 21, 1987. Amended: Filed September 21, 1992; effective October 26, 1992. Amended: Filed September 18, 2002; effective October 23, 2002. Repealed and New Rule: Filed December 17, 2003; effective January 21, 2004. Amended: Filed December 17, 2007; effective January 21, 2008. Amended: Filed May 17, 2013; effective June 21, 2013. Amended: Filed January 19, 2017; effective March 5, 2017. Amended: Filed July 19, 2018; effective September 2, 2018. Amended: Published December 30, 2021; effective February 13, 2022.