Download Washington State Newborn Screening Changes to Chapter 246

Washington State Newborn Screening
Changes to Chapter 246-650 WAC
On May 14, 2008, the State Board of Health 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.
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 began screening
infants for the new disorders in July 2008.
15 disorders added to list of conditions in Chapter 246-650 WAC.
These disorders are treated at Seattle Children’s.
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.
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Argininosuccinic acidemia (ASA)
Citrullinemia (CIT)
Tyrosinemia type I (TYR I)
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)
Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHADD)
Trifunctional protein deficiency (TFP)
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)
Beta-Ketothiolase deficiency (BKT)
Glutaric acidemia type I (GA I)
Isovaleric acidemia (IVA)
Methylmalonic acidemia (Cbl A, B)
Methylmalonic acidemia (mutase deficiency) (MUT)
Multiple carboxylase deficiency (MCD)
Propionic acidemia (PROP)
10 disorders already included in Chapter 246-650 WAC.
These disorders are treated at the UWMC Clinic.
Amino acid disorders:
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Homocystinuria (HCY)
Maple syrup urine disease (MSUD)
Phenylketonuria (PKU)
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.
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.
Congenital hypothyroidism: a disorder of thyroid function during the neonatal
period causing impaired mental functioning if undetected and untreated.
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.
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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Medium chain acyl-CoA dehydrogenase deficiency (MCADD)