Washington Administrative Code
Title 246 - Health, Department of
LABORATORY
Chapter 246-650 - Newborn screening
Section 246-650-010 - Definitions

(1) "Amino acid disorders" means argininosuccinic acidemia (ASA), citrullinemia type I (CIT), homocystinuria (HCY), maple syrup urine disease (MSUD), phenylketonuria (PKU), and tyrosinemia type I (TYR I), which may cause severe complications including intellectual disability, coma, seizures, and possibly death.

(2) "Board" means the Washington state board of health.

(3) "Biotinidase deficiency" means a deficiency of an enzyme (biotinidase) that facilitates the body's recycling of biotin. The result is biotin deficiency, which if undetected and untreated, may result in severe neurological damage or death.

(4) "Congenital adrenal hyperplasia" means a severe disorder of adrenal steroid metabolism which may result in death of an infant during the neonatal period if undetected and untreated.

(5) "Congenital hypothyroidism" means a disorder of thyroid function during the neonatal period causing impaired mental functioning if undetected and untreated.

(6) "Critical congenital heart disease" means an abnormality in the structure or function of the heart that exists at birth, causes severe, life-threatening symptoms, and requires medical intervention within the first year of life.

(7) "Cystic fibrosis" means a life-shortening disorder caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), a transmembrane protein involved in ion transport. Affected individuals suffer from chronic, progressive pulmonary disease and nutritional deficits. Early detection and enrollment in a comprehensive care system provides improved outcomes and avoids the significant nutritional and growth deficits that are evident when diagnosed later.

(8) "Department" means the Washington state department of health.

(9) "Fatty acid oxidation disorders" means carnitine uptake defect (CUD), long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHADD), medium-chain acyl-CoA dehydrogenase deficiency (MCADD), trifunctional protein deficiency (TFP), and very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). These disorders can lead to hypoglycemia and metabolic crises resulting in serious damage affecting the brain, liver, heart, eyes, muscle, and possibly death.

(10) "Galactosemia" means a deficiency of enzymes that help the body convert the simple sugar galactose into glucose resulting in a buildup of galactose and galactose-1-PO4 in the blood. If undetected and untreated, accumulated galactose-1-PO4 may cause significant tissue and organ damage often leading to sepsis and death.

(11) "Hemoglobinopathies" means a group of hereditary blood disorders caused by genetic alteration of hemoglobin which results in characteristic clinical and laboratory abnormalities and which leads to developmental impairment or physical disabilities.

(12) "Newborn" means an infant born in any setting in the state of Washington.

(13) "Newborn screening specimen/information form" means a form provided by the department for collecting a newborn's dried blood spots and information used to screen for congenital disorders under this chapter. This includes the filter paper portion and associated dried blood spots.

(14) "Mucopolysaccharidosis I (MPS-I)" means a multisystem disorder caused by mutations in the alpha-L-iduroni-dase gene in which a lysosomal enzyme is deficient, leading to accumulation of mucopolysaccharides (a type of carbohydrate) and other metabolites. This includes Hurler, Hurler-Scheie, and Scheie syndromes.

(15) "Organic acid disorders" means 3-OH 3-CH3 glutaric aciduria (HMG), betaketothiolase deficiency (BKT), glutaric acidemia type I (GA 1), isovaleric acidemia (IVA), methylmalonic acidemia (CblA,B), methylmalonic acidemia (mutase deficiency) (MUT), multiple carboxylase deficiency (MCD), and propionic acidemia (PROP). These disorders can lead to metabolic crises resulting in severe nerve damage, physical damage, and possibly death.

(16) "Pompe disease" means a neuromuscular disorder caused by mutations in the acid glucosidase gene which result in reduced or absent activity of the acid alpha glucosidase enzyme.

(17) "Significant screening test result" means a laboratory test result indicating a suspicion of abnormality and requiring diagnostic evaluation of the involved infant for a specific congenital disorder.

(18) "Severe combined immunodeficiency (SCID)" means a group of congenital disorders characterized by profound deficiencies in T- and B- lymphocyte function. This results in very low or absent production of the body's primary infection fighting processes that, if left untreated, results in severe recurrent, and often life-threatening infections within the first year of life.

(19) "Spinal muscular atrophy (SMA)" means a genetic disorder caused by mutations in the survival motor neuron 1 (SMN1) gene, which impairs the function of the survival motor neuron (SMN) protein. This results in the loss of motor neurons and causes progressive atrophy of skeletal muscles.

(20) "X-linked adrenoleukodystrophy (X-ALD)" means a peroxisomal disorder caused by mutations in the ABCD1 gene located on the X chromosome. If untreated this can lead to adrenocortical deficiency, damage to the nerve cells of the brain, paralysis of the lower limbs, mental decline, disability, or death.