The definitions in this section apply throughout this chapter
unless the context clearly requires otherwise.
(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
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
(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
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.
"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.
"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
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
(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
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
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.