Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning

Molecular Genetics and Metabolism

Volumn 113, Issue 1, 2014, Pages 14-26

  Therrell, Bradford L ^a,d   Lloyd Puryear, Michele A ^b   Camp, Kathryn M ^b   Mann, Marie Y ^c  

^a UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^b National Newborn Screening and Genetics Resource Center   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d HEALTH RESOURCES AND SERVICES ADMINISTRATION   (United States)

Author keywords

Costs; Inborn errors of metabolism; Incidence; Medical foods; Newborn screening; Nutrition

Indexed keywords

3 HYDROXYACYL COA DEHYDROGENASE DEFICIENCY; 3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACETYL COENZYME A ACYLTRANSFERASE; BIOTINIDASE; CARBOXYLASE; CARNITINE; COENZYME A; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; METHYLCROTONOYL COENZYME A CARBOXYLASE; METHYLMALONYL COENZYME A MUTASE; UNCLASSIFIED DRUG;

3 HYDROXY 3 METHYL GLUTARIC ACIDURIA; ACETYL COENZYME A ACYLTRANSFERASE DEFICIENCY; ARGININOSUCCINIC ACIDURIA; CARNITINE UPTAKE DEFECT; CITRULLINEMIA; DIET SUPPLEMENTATION; DISORDERS OF CARBOHYDRATE METABOLISM; GALACTOSEMIA; HEALTH CARE COST; HOMOCYSTINURIA; HUMAN; INBORN ERROR OF METABOLISM; INCIDENCE; INFORMATION SYSTEM; ISOVALERIC ACIDEMIA; MAJOR CLINICAL STUDY; MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFICIENCY; METHYLMALONIC ACADEMIA; METHYLMALONIC ACIDEMIA; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NEWBORN SCREENING; PHENYLKETONURIA; PROPIONIC ACIDEMIA; REVIEW; TRIFUNCTIONAL PROTEIN DEFICIENCY; UNITED STATES; VERY LONG CHAIN ACYL COA DEHYDROGENASE DEFICIENCY; DIET THERAPY; HEALTH SURVEY; METABOLISM, INBORN ERRORS; METHODOLOGY; NEWBORN;

HEALTH CARE COSTS; HUMANS; INCIDENCE; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; PUBLIC HEALTH SURVEILLANCE; RESEARCH DESIGN; UNITED STATES;

EID: 84908544728     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.07.009     Document Type: Review

References (31)

1. Camp K.M., Lloyd-Puryear M.A., Yao L., Groft S.C., Parisi M.A., Mulberg A., Gopal-Srivastava R., Cederbaum S., Enns G.M., Ershow A.G., Frazier D.M., Gohagan J., Harding C., Howell R.R., Regan K., Stacpoole P.W., Venditti C., Vockley J., Watson M., Coates P.M. Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism. Mol. Genet. Metab. 2013, 109:319-328.
2. Therrell B.L., Hannon W.H. National evaluation of US newborn screening system components. Ment. Retard. Dev. Disabil. Res. Rev. 2006, 12:236-245.
3. Camp K.M., Lloyd-Puryear M.A., Huntington K.L. Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example. Mol. Genet. Metab. 2012, 107:3-9.
4. U.S.Food and Drug Administration Food and Drugs - Orphan Drugs, CFR, 21 U.S.C. 360ee (b) (3) 1992.
5. Vockley J., Andersson H.C., Antshel K.M., Braverman N.E., Burton B.K., Frazier D.M., Mitchell J., Smith W.E., Thompson B.H., Berry S.A. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet. Med. 2014, 16:188-200.
6. U.S.Food and Drug Administration DSHEA (Dietary Supplement Health and Education Act of 1994), Pub. L. No. 103-417 1994.
7. Schoen E.J., Baker J.C., Colby C.J., To T.T. Cost-benefit analysis of universal tandem mass spectrometry for newborn screening. Pediatrics 2002, 110:781-786.
8. Carroll A.E., Downs S.M. Comprehensive cost-utility analysis of newborn screening strategies. Pediatrics 2006, 117:S287-S295.
9. Norman R., Haas M., Chaplin M., Joy P., Wilcken B. Economic evaluation of tandem mass spectrometry newborn screening in Australia. Pediatrics 2009, 123:451-457.
10. Tiwana S.K., Rascati K.L., Park H. Cost-effectiveness of expanded newborn screening in Texas. Value Health 2012, 15:613-621.
11. Venditti L.N., Venditti C.P., Berry G.T., Kaplan P.B., Kaye E.M., Glick H., Stanley C.A. Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis. Pediatrics 2003, 112:1005-1015.
12. van der Hilst C.S., Derks T.G., Reijngoud D.J., Smit G.P., TenVergert E.M. Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands. J. Pediatr. 2007, 151:115-120. (120 e111-113.2007).
13. Hamers F.F., Rumeau-Pichon C. Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France. BMC Pediatr. 2012, 12. (60.2012).
14. Pfeil J., Listl S., Hoffmann G.F., Kolker S., Lindner M., Burgard P. Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis. Orphanet J Rare Dis. 2013, 8:167.2013.
15. Johnson K., Lloyd-Puryear M.A., Mann M.Y., Ramos L.R., Therrell B.L. Financing state newborn screening programs: sources and uses of funds. Pediatrics 2006, 117:S270-S279.
16. Therrell B.L., Williams D., Johnson K., Lloyd-Puryear M.A., Mann M.Y., Ramos L.R. Financing newborn screening: sources, issues, and future considerations. J Public Health Manag Pract. 2007, 13:207-213.
17. Secretary's Discretionary Advisory Committee on Heritable Disorders in Newborns, Children Recommendations & Responses from the HHS Secretary: Health Care Reform Internet, (accessed April 2014). http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendations/index.html.
18. Weaver M.A., Johnson A., Singh R.H., Wilcox W.R., Lloyd-Puryear M.A., Watson M.S. Medical foods: inborn errors of metabolism and the reimbursement dilemma. Genet. Med. 2010, 12:364-369.
19. Berry S.A., Kenney M.K., Harris K.B., Singh R.H., Cameron C.A., Kraszewski J.N., Levy-Fisch J., Shuger J.F., Greene C.L., Lloyd-Puryear M.A., Boyle C.A. Insurance coverage of medical foods for treatment of inherited metabolic disorders. Genet. Med. 2013, 15:978-982.
20. Therrell B.L., Wu C. Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and recommendations from the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children. Genet. Med. 2013, 15:229-233. in collaboration with the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) and the SACHDNC Subcommittee on Follow-up and Treatment.
21. Puryear M., Weissman G., Watson M., Mann M., Strickland B., van Dyck P.C. The regional genetic and newborn screening service collaboratives: the first two years. Ment. Retard. Dev. Disabil. Res. Rev. 2006, 12:288-292.
22. NBS Working Group American College of Medical Genetics, newborn screening: toward a uniform screening panel and system. Genet. Med. 2006, 8(Suppl. 1):1S-252S.
23. Secretary's Discretionary Advisory Committee on Heritable Disorders in Newborns, Children Recommendations & responses from the HHS Secretary-medical foods-Tab B: table of conditions and medical foods Internet, (accessed April 2014). http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/reportsrecommendations/reports/tableconditions.pdf.
24. NBS Working Group, American College of Medical Genetics ACTSHEETS and Confirmatory Algorithms Internet, (accessed April 2014). https://www.acmg.net/ACMG/Resources/ACT_Sheets_and_Confirmatory_Algorithms/ACMG/Resources/ACT_Sheets_and_Confirmatory_Algorithms/ACT_sheets_Homepage.aspx.
25. Screening, Technology And Research in Genetics (STAR-G) Project Expanded newborn screening using tandem mass spectrometry Internet, (accessed September 2012). http://www.newbornscreening.info/index.html.
26. van Karnebeek C.D., Stockler S. Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review. Mol. Genet. Metab. 2012, 105:368-381.
27. Blau N., MacDonald A., van Spronsen F. There is no doubt that the early identification of PKU and prompt and continuous intervention prevents mental retardation in most patients. Mol. Genet. Metab. 2011, 104:S1. (Suppl., S1.2011).
28. Burgard P., Rey F., Rupp A., Abadie V., Rey J. Neuropsychologic functions of early treated patients with phenylketonuria, on and off diet: results of a cross-national and cross-sectional study. Pediatr. Res. 1997, 41:368-374.
29. Lino M. Expenditures on Children by Families 2007.
30. Center for Nutrition Policy and Promotion 2008, (Washington, D.C.). U.S. Department of Agriculture (Ed.).
31. K.P. The average monthly family food budget Internet, (accessed April 2014). http://www.ehow.com/about_7344144_average-monthly-family-food-budget.html#page=0.