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Newborn Screening Readings

Factsheets for all disorders can be found here:

Amino Acid Disorders

Argininosuccinic acidemia (ASA)

Citrullinemia (CIT)

Homocystinuria (HCY)

Maple syrup urine disease (MSUD)

Phenylketonuria (PKU)

Tyrosinemia type I (TYR-I)

Fatty Acid Disorders

Carnitine uptake deficiency (CUD)

Long-chain L-3-hydroxy acyl-CoA (LCHAD) deficiency

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Trifunctional protein (TFP) deficiency

Very-long chain Acyl-CoA dehydrogenase (VLCAD) deficiency

Organic Acid Disorders

3-hydroxy-3-methylglutaric aciduria (HMG)

Beta-ketothiolase deficiency (BKT)

Glutaric acidemia type I (GA-I)

Isovaleric acidemia (IVA)

Methylmalonic acidemias (CblA,B and MUT)

Multiple carboxylase deficiency (MCD)

Propionic acidemia (PROP)

Other Disorders

Biotinidase deficiency (BIOT)

Congenital adrenal hyperplasia (CAH)

Congenital hypothyroidism (CH)

Cystic fibrosis (CF)

Galactosemia (GALT)

Hemoglobinopathies (Hb)

References:

Washington State Newborn Screening



Star G-Screening, Technology, and Research in Genetics

National Newborn Screening and Genetics Resource Center

Building Block for Life Volume 27, No 1. Pediatric Nutrition Practice Group (Expanded NBS) Archives are online for PNPG members:

Building Block for Life Volume 30, No 3. Pediatric Nutrition Practice Group (Genetics and Expanded NBS) Archives are online for PNPG members:

Genetests Clinic Directory can search for biochemical genetics clinic by state, zip code etc.

Seattle Children’s Hospital Paging Operator (to reach the Biochemical Genetics physician on-call): (206) 987-2000

Articles

Banta-Wright SA, Steiner RD. Tandem mass spectrometry in newborn screening: a primer for neonatal and perinatal nurses. J Perinat Neonatal Nurs. 2004 Jan-Mar;18(1):41-58

Pasquali M, Monsen G, Richardson L, Alston M, Longo N. Biochemical Findings in Common Inborn Errors of Metabolism. Am J Med Genet Part C Semin Med Genet 142C:64-76.

Brosco JP, Seider MI, Dunn AC. Universal Newborn Screening and Adverse Medical Outcomes: A Historical Note. Mental Retardation and Developmental Disabilities Research Reviews 12:262-269 (2006).

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