Newborn screening conditions: What we know, what we do not know, and how we will know it

Genetics in Medicine

Volumn 12, Issue 12 SUPPL, 2010, Pages

  Levy, Harvey L ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

ACMG; American College of Medical Genetics; expanded newborn screening; long term follow up; LTFU; NBSTRN; newborn screening translational research network; tandem mass spectrometry

Indexed keywords

GALACTOSEMIA; HEALTH PROGRAM; HUMAN; HYPERPHENYLALANINEMIA; MEDICAL RESEARCH; METABOLIC DISORDER; NEWBORN SCREENING; REVIEW; TANDEM MASS SPECTROMETRY;

COST-BENEFIT ANALYSIS; EVIDENCE-BASED MEDICINE; EXPERT TESTIMONY; FOLLOW-UP STUDIES; GENETIC DISEASES, INBORN; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; RARE DISEASES; TANDEM MASS SPECTROMETRY; TRANSLATIONAL RESEARCH; UNITED STATES;

ACER;

EID: 78650784235     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181fe5d77     Document Type: Review

References (21)

1. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketo-nuria in large populations of newborn infants. Pediatrics 1963;32:338-343.
2. Koch JH. Robert Guthrie: The PKU story. Pasadena, CA: Hope Publishing House, 1997.
3. Guthrie R. Screening for "inborn errors of metabolism" in the newborn in-fant- a multiple test program. Birth Defects Orig Artic Ser 1968;IV:92-98.
4. Carson NA, Cusworth DC, Dent CE, et al. Homocystinuria: a new inborn error of metabolism associated with mental deficiency. Arch Dis Child 1963;38:425-436.
5. Menkes JH. Maple syrup disease; isolation and identification of organic acids in the urine. Pediatrics 1959;23:348-353.
6. Barnes MG, Komarmy L, Novack AH. A comprehensive screening program for hemoglobinopathies. JAMA 1972;219:701-705.
7. Wilcken B, Haas M, Joy P, et al. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet 2007;369:37-42.
8. Schulze A, Lindnen M, Kohlmüller D, Olgemöllen K, Mayatepek E, Hoffmann GF. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 2003;111:1399-1406.
9. American College of Medical Genetics, Newborn Screening Expert Group. Newborn screening: toward a uniform panel and system. Genet Med, 2006, 8(suppl 1):1s-252s.
10. Available at: http://genes-r-us.uthscsa.edu. Accessed May 7, 2010.
11. Sahai I, Levy HL. Newborn screening. In: Gleason CA, Devaskan S, editors. Avery's diseases of the newborn, 9th ed. In press.
12. Waisbren SE, Levy HL, Noble M, et al. Short-chain acyl CoA dehydroge-nase deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms. Mol Genet Metab 2008;95:39-45.
13. Marsden D, Levy HL. Newborn screening for metabolic disorders. J Pediatr 2006;148:577-584.
14. Spiekerkoetter U, Sun B, Zytkovicz T, Wanders R, Strauss AW, Wendel U. MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J Pediatr 2003; 143:335-342.
15. Ensenauer R, Vockley J, Willard J-M, et al. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet 2004;75:1136-1142.
16. Häberle J, Pauli S, Schmidt E, Schulze-Eilfing B, Benning C, Koch HG. Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). Mol Genet Metab 2003;80:302-306.
17. Kennedy JL, Wertelecki W, Gates L, Sperry BP, Cass VM. The early treatment of phenylketonuria. Am J Dis Child 1967;113:16-21.
18. Weglage J, Pietsch M, Feldmann R, et al. Normal clinical outcome in untreated subjects with mild hyperphenylalaniemia. Pediatr Res 2001;49: 532-536.
19. Levy HL, Sepe SJ, Walton DS, et al. Galactose-1-phosphate uridyl trans-ferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies. J Pediatr 1978;92:390-393.
20. Ficicioglu C, Thomas N, Yager C, et al. Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment of children detected by newborn screening. Mol Genet Metab 2008;95:206-212.
21. Available at: www.cancer.gov. Accessed May 7, 2010.