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Newborn Screening
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Meetings
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Conditions Considered
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Condition Scores
and Comments
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Fact Sheets
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Family Stories
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Reference Materials
Changes to
Chapter 246-650 WAC
On May 14, the Board approved the addition of 15
disorders to the list of conditions for which all newborns must be
tested » bringing the total number of disorders to 25. The 15 disorders
were reviewed and recommended for screening by the Newborn Screening
Advisory Committee. (More details on the revision process and disorders are available
at:
http://www.sboh.wa.gov/Goals/HealthyBehaviors/NewbornScreening/NSAC.htm.)
All of the 15 new disorders are metabolic. Early
detection and treatment can prevent most or all of the consequences
described below. The Department of Health will begin screening infants
for 14 of the new disorders in July 2008. Testing for the last of the
new disorders, tyrosinemia type 1, is a little more complex so it will
take a few more weeks before it can be implemented.
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15
disorders added to list of conditions in Chapter 246-650 WAC (May 14, 2008)
Amino acid disorders:
These disorders are characterized by the body» s
inability to correctly process amino acids or the inability to
process the ammonia that is released during the break down of amino
acids. The accumulation of amino acids, ammonia or other by-products
may cause severe complications including mental retardation, coma,
seizures, and possibly causing death.
Fatty acid oxidation disorders:
These disorders are characterized by the body» s
inability to efficiently use stored fat to make energy. During times of
extra energy need such as prolonged fasting or acute illness, affected
infants can suffer dangerously low blood sugar and metabolic crises
resulting in serious damage affecting the brain, liver, heart, eyes,
muscle, and possibly causing death.
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Carnitine uptake defect (CUD)
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Long-chain L-3-OH acyl-CoA dehydrogenase
deficiency (LCHADD)
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Trifunctional protein deficiency (TFP)
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Very long-chain acyl-CoA dehydrogenase
deficiency (VLCADD)
Organic acid disorders:
These disorders are characterized by errors in
processing amino acids resulting in the accumulation of non-amino
organic acids and toxic intermediates. This may lead to metabolic crisis
with increases in acid and ammonia in the blood, and dangerously low
blood sugar resulting in severe nerve and physical damage and possibly
causing death.
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3-OH 3-CH3 glutaric aciduria (HMG)
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Beta-Ketothiolase deficiency (BKT)
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Glutaric acidemia type I (GA 1)
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Isovaleric acidemia (IVA)
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Methylmalonic acidemia (Cbl A, B)
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Methylmalonic acidemia (mutase deficiency) (MUT)
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Multiple carboxylase deficiency (MCD)
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Propionic acidemia (PROP)
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10 disorders already included in Chapter 246-650 WAC):
Amino acid disorders:
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Homocystinuria (HCY)
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Maple syrup urine disease (MSUD)
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Phenylketonuria (PKU)
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Biotinidase deficiency: 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.
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Congenital adrenal hyperplasia: a severe
disorder of adrenal steroid metabolism which may result in death of
an infant during the neonatal period if undetected and untreated.
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Congenital hypothyroidism: a disorder of
thyroid function during the neonatal period causing impaired mental
functioning if undetected and untreated.
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Cystic fibrosis: a life-shortening
disease 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.
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Galactosemia: 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.
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Hemoglobinopathies: including sickle
cell anemia (Hb SS), sickle / beta thalassemia (Hb S/β-thalassemia),
sickle / C disease (HbS/C), and other hereditary blood disorders
caused by genetic alteration of hemoglobin which results in
characteristic clinical and laboratory abnormalities and which lead
to developmental impairment or physical disabilities.
Fatty acid oxidation disorders:
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For more information on the process used, visit
http://www.sboh.wa.gov/Goals/HealthyBehaviors/NewbornScreening/NSAC.htm.
For more detail on changes to
Chapter 246-650 WAC
and the public hearing conducted as part of the rule revision, visit
http://www.sboh.wa.gov/Meetings/2008/05-14/Materials.htm#Item_11
For more information on the state» s newborn
screening program, visit their site at
http://www.doh.wa.gov/nbs.
Contact us:
If you have questions or need additional information, please contact:
Department of Health:
Washington State Board of Health:
For assistance with these materials contact:
Tara Wolff at (360) 236-4101
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