Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry

Journal of Pediatrics

Volumn 157, Issue 2, 2010, Pages 271-275

  Tortorelli, Silvia ^a   Turgeon, Coleman T ^a   Lim, James S ^a   Baumgart, Steve ^b   Day Salvatore, Debra Lynn ^c   Abdenur, Jose ^d   Bernstein, Jonathan A ^e   Lorey, Fred ^f   Lichter Konecki, Uta ^b   Oglesbee, Devin ^a   Raymond, Kimiyo ^a   Matern, Dietrich ^a   Schimmenti, Lisa ^g   Rinaldo, Piero ^a   Gavrilov, Dimitar K ^a  

^a MAYO CLINIC COLLEGE OF MEDICINE   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c SAINT PETER S UNIVERSITY HOSPITAL   (United States)

^d CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^e STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f CALIFORNIA DEPARTMENT OF PUBLIC HEALTH   (United States)

^g UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); HOMOCYSTEINE; METHIONINE; PHENYLALANINE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2);

ALGORITHM; ARTICLE; CHEMICAL ANALYSIS; CLINICAL ARTICLE; CONCENTRATION (PARAMETERS); ENDOCRINE DISEASE; ENZYME DEFICIENCY; FEASIBILITY STUDY; HUMAN; LABORATORY; MEDICAL RECORD REVIEW; METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY; NEWBORN SCREENING; POPULATION; PRIORITY JOURNAL; PROSPECTIVE STUDY; RETROSPECTIVE STUDY; TANDEM MASS SPECTROMETRY; WORKLOAD; BLOOD; INBORN ERROR OF METABOLISM; METHODOLOGY; MUTATION; NEWBORN; REFERENCE VALUE; REPRODUCIBILITY;

ALGORITHMS; HOMOCYSTEINE; HUMANS; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; METHIONINE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUTATION; NEONATAL SCREENING; PHENYLALANINE; REFERENCE VALUES; REPRODUCIBILITY OF RESULTS; RETROSPECTIVE STUDIES; TANDEM MASS SPECTROMETRY;

EID: 77955288342     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2010.02.027     Document Type: Article

References (23)

1. H. Ogier de Baulny, M. Gerard, J.M. Saudubray, and J. Zittoun Remethylation defects: guidelines for clinical diagnosis and treatment Eur J Pediatr 157 Suppl. 2 1998 S77 S83
2. K.A. Strauss, D.H. Morton, E.G. Puffenberger, C. Hendrickson, D.L. Robinson, and C. Wagner Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency Mol Genet Metab 91 2007 165 175
3. Watson M, Lloyd-Puryear M, Rinaldo P, Howell R, editors. Newborn screening: toward a uniform screening panel and system. Executive summary. Genet Med 2006; 8 (Suppl):1-11S.
4. D. Matern, S. Tortorelli, D. Oglesbee, D. Gavrilov, and P. Rinaldo Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007) J Inherit Metab Dis 30 2007 585 592
5. I.R. Miousse, D. Watkins, D. Coelho, T. Rupar, E.A. Crombez, and E. Vilain Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism J Pediatr 154 2009 551 556
6. C. Turgeon, M.J. Magera, P. Allard, S. Tortorelli, D. Gavrilov, and D. Oglesbee Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots Clin Chem 54 2008 657 664
7. Matern D CC, Magera MJ, Tortorelli S, Hahn S, Rinaldo P. A reporting algorithm for elevated propionylcarnitine (C3) including a 2nd tier test for methylmalonic acid and homocysteine. Paper presented at 2005 Newborn Screening and Genetic Testing Symposium. Portland, OR; 2005.
8. T. Suormala, M.R. Baumgartner, D. Coelho, P. Zavadakova, V. Kozich, and H.G. Koch The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis J Biol Chem 279 2004 42742 42749
9. D. Rosenblatt Inherited disorders of folate and cobalamin transport and metabolism C.R. Scriver, W.S. Sly, D. Valle, Metabolic and molecular bases of inherited disease 8th ed 2001 McGraw-Hill New York 24 31
10. D.S. Rosenblatt, and V.M. Whitehead Cobalamin and folate deficiency: acquired and hereditary disorders in children Semin Hematol 36 1999 19 34
11. A.A. Al Tawari, D.G. Ramadan, D. Neubauer, L.C. Heberle, and F. Al Awadi An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait Brain Dev 24 2002 304 309
12. N.G. Abeling, A.H. van Gennip, H. Blom, R.A. Wevers, P. Vreken, and H.L. van Tinteren Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency J Inherit Metab Dis 22 1999 240 242
13. D. Walk, S.S. Kang, and A. Horwitz Intermittent encephalopathy, reversible nerve conduction slowing, and MRI evidence of cerebral white matter disease in methylenetetrahydrofolate reductase deficiency Neurology 44 1994 344 347
14. A. Fattal-Valevski, H. Bassan, S.H. Korman, T. Lerman-Sagie, A. Gutman, and S. Harel Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis J Child Neurol 15 2000 539 543
15. S.K. Ucar, O.A. Koroglu, O. Berk, M. Yalaz, N. Kultursay, and H.J. Blom Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency Eur J Pediatr 2010 169
16. B.A. Cooper, and D.S. Rosenblatt Inherited defects of vitamin B12 metabolism Annu Rev Nutr 7 1987 291 320
17. D. Watkins, and D.S. Rosenblatt Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity Am J Med Genet 34 1989 427 434
18. C.A. Hall Function of vitamin B12 in the central nervous system as revealed by congenital defects Am J Hematol 34 1990 121 127
19. C.A. Hall, R.H. Lindenbaum, E. Arenson, J.A. Begley, and R.C. Chu The nature of the defect in cobalamin G mutation Clin Invest Med 12 1989 262 269
20. D.S. Rosenblatt, I.T. Thomas, D. Watkins, B.A. Cooper, and R.W. Erbe Vitamin B12 responsive homocystinuria and megaloblastic anemia: heterogeneity in methylcobalamin deficiency Am J Med Genet 26 1987 377 383
21. K.A. Strnadova, M. Holub, A. Muhl, G. Heinze, R. Ratschmann, and H. Mascher Long-term stability of amino acids and acylcarnitines in dried blood spots Clin Chem 53 2007 717 722
22. B.L. Therrell, W.H. Hannon, K.A. Pass, F. Lorey, C. Brokopp, and J. Eckman Guidelines for the retention, storage, and use of residual dried blood spot samples after newborn screening analysis: statement of the Council of Regional Networks for Genetic Services Biochem Mol Med 57 1996 116 124
23. D.H. Chace, B.W. Adam, S.J. Smith, J.R. Alexander, S.L. Hillman, and W.H. Hannon Validation of accuracy-based amino acid reference materials in dried-blood spots by tandem mass spectrometry for newborn screening assays Clin Chem 45 1999 1269 1277