A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism

Molecular Genetics and Metabolism

Volumn 95, Issue 1-2, 2008, Pages 11-16

  Campeau, Philippe M ^a,b   Scriver, Charles R ^a,b   Mitchell, John J ^a,b  

^a Department of Pediatrics   (Canada)

^b MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

Cell transplantation; Enzyme replacement therapy; Gene therapy; Inborn errors of metabolism; Networks; Protein restriction; Substrate reduction therapy; The Internet

Indexed keywords

ARTICLE; CELL TRANSPLANTATION; ENDOCRINE SYSTEM EXAMINATION; ENZYME REPLACEMENT; HOMEOSTASIS; HUMAN; INBORN ERROR OF METABOLISM; LONGITUDINAL STUDY; ORGAN TRANSPLANTATION; PRIORITY JOURNAL; SCORING SYSTEM; TREATMENT RESPONSE;

CELL TRANSPLANTATION; DISEASE PROGRESSION; HUMANS; LONGITUDINAL STUDIES; METABOLISM, INBORN ERRORS; TREATMENT OUTCOME;

EID: 51849109332     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.07.001     Document Type: Article

References (60)

1. Applegarth D.A., Toone J.R., and Lowry R.B. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 105 (2000) e10
2. Dionisi-Vici C., Rizzo C., Burlina A.B., Caruso U., Sabetta G., Uziel G., and Abeni D. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J. Pediatr. 140 (2002) 321-327
3. Sanderson S., Green A., Preece M.A., and Burton H. The incidence of inherited metabolic disorders in the West Midlands, UK. Arch. Dis. Child. 91 (2006) 896-899
4. G. Jimenez-Sanchez, B. Childs, D. Valle, Chapter 4: The effect of mendelian disease on human health, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds), B. Childs, K.W. Kinzler, B. Vogelstein (Associate Eds.), The Online Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York, NY, 2001-2007.
5. Hayes A., Costa T., Scriver C.R., and Childs B. The effect of Mendelian disease on human health. II: response to treatment. Am. J. Med. Genet. 21 (1985) 243-255
6. Costa T., Scriver C.R., and Childs B. The effect of Mendelian disease on human health: a measurement. Am. J. Med. Genet. 21 (1985) 231-242
7. Treacy E., Childs B., and Scriver C.R. Response to treatment in hereditary metabolic disease: 1993 survey and 10-year comparison. Am. J. Hum. Genet. 56 (1995) 359-367
8. Childs B. Genetic Medicine: A Logic of Disease (1999), Johns Hopkins University Press, Baltimore pp. 215-216
9. J. Walter, J. Wraith, Treatment Present Status and New Trends, Inborn Metabolic Diseases, 2006, pp. 81-97.
10. Longo N., Amat di San Filippo C., and Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am. J. Med. Genet. C Semin. Med. Genet. 142C (2006) 77-85
11. OMIM, Online Mendelian Inheritance in Man (TM), McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2007.
12. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds), B. Childs, K.W. Kinzler, B. Vogelstein (Associate Eds.), The Online Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York, NY, 2001-2007.
13. NIH National Library Medicine. Available from: , 2000-2007.
14. Wiley, The Journal of Gene Medicine Clinical Trial. Available from: , 2007.
15. WHO, International Clinical Trials Registry Platform. Available from: , 2007.
16. McKusick V.A. Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes (1981), Johns Hopkins University Press, Baltimore
17. Ozalp I., Hasanoglu A., Tuncbilek E., and Yalaz K. Hyperlysinemia without clinical findings. Acta Paediatr. Scand. 70 (1981) 951-953
18. Dancis J., Hutzler J., Ampola M.G., Shih V.E., van Gelderen H.H., Kirby L.T., and Woody N.C. The prognosis of hyperlysinemia: an interim report. Am. J. Hum. Genet. 35 (1983) 438-442
19. Bailey D.B., Beskow L.M., Davis A.M., and Skinner D. Changing perspectives on the benefits of newborn screening. Ment. Retard. Dev. Disabil. Res. Rev. 12 (2006) 270-279
20. Watson M.S., Lloyd-Puryear M.A., Mann M.Y., Rinaldo P., and Howell R.R. Newborn screening: toward a uniform screening panel and system. Genet. Med. 8 Suppl. 1 (2006) 252
21. Biesecker L.G. Lumping and splitting: molecular biology in the genetics clinic. Clin. Genet. 53 (1998) 3-7
22. McKusick V.A. On lumpers and splitters, or the nosology of genetic disease. Perspect. Biol. Med. 12 (1969) 298-312
23. Moses S.W., and Parvari R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr. Mol. Med. 2 (2002) 177-188
24. Mudd S.H., Skovby F., Levy H.L., Pettigrew K.D., Wilcken B., Pyeritz R.E., Andria G., Boers G.H., Bromberg I.L., and Cerone R. The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am. J. Hum. Genet. 37 (1985) 1-31
25. Cederbaum S.D. New frontiers in hereditary metabolic disease: an historical perspective. Mol. Genet. Metab. 87 (2006) 184-189
26. D.S. Wishart, Chapter 3.1: metabolism and metabolic disease resources on the Web, in: A.L. Beaudet, W.S. Sly, D. Valle (Eds.), B. Childs, K.W. Kinzler, B. Vogelstein, C.R. Scriver (Associate Eds.), The Online Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York, NY, 2001-2008.
27. van der Veere C.N., Sinaasappel M., McDonagh A.F., Rosenthal P., Labrune P., Odievre M., Fevery J., Otte J.B., McClean P., Burk G., Masakowski V., Sperl W., Mowat A.P., Vergani G.M., Heller K., Wilson J.P., Shepherd R., and Jansen P.L. Current therapy for Crigler-Najjar syndrome type 1: report of a world registry. Hepatology 24 (1996) 311-315
28. Wikoff W.R., Gangoiti J.A., Barshop B.A., and Siuzdak G. Metabolomics identifies perturbations in human disorders of propionate metabolism. Clin. Chem. 53 (2007) 2169-2176
29. Wishart D.S., Tzur D., Knox C., Eisner R., Guo A.C., Young N., Cheng D., Jewell K., Arndt D., Sawhney S., Fung C., Nikolai L., Lewis M., Coutouly M.-A., Forsythe I., Tang P., Shrivastava S., Jeroncic K., Stothard P., Amegbey G., Block D., Hau D.D., Wagner J., Miniaci J., Clements M., Gebremedhin M., Guo N., Zhang Y., Duggan G.E., MacInnis G.D., Weljie A.M., Dowlatabadi R., Bamforth F., Clive D., Greiner R., Li L., Marrie T., Sykes B.D., Vogel H.J., and Querengesser L. HMDB: the human metabolome database. Nucleic Acids Res. 35 (2007) D521-D526
30. Lanpher B., Brunetti-Pierri N., and Lee B. Inborn errors of metabolism: the flux from Mendelian to complex diseases. Nat. Rev. Genet. 7 (2006) 449-459
31. Cotton R.G.H., Appelbe W., Auerbach A.D., Becker K., Bodmer W., Boone D.J., Boulyjenkov V., Brahmachari S., Brody L., Brookes A., Brown A.F., Byers P., Cantu J.M., Cassiman J.-J., Claustres M., Concannon P., Cotton R.G.H., den Dunnen J.T., Flicek P., Gibbs R., Hall J., Hasler J., Katz M., Kwok P.-Y., Laradi S., Lindblom A., Maglott D., Marsh S., Masimirembwa C.M., Minoshima S., de Ramirez A.M.O., Pagon R., Ramesar R., Ravine D., Richards S., Rimoin D., Ring H.Z., Scriver C.R., Sherry S., Shimizu N., Stein L., Tadmouri G.O., Taylor G., and Watson M. Recommendations of the 2006 Human Variome Project meeting. Nat. Genet. 39 (2007) 433-436
32. Goh K.-I., Cusick M.E., Valle D., Childs B., Vidal M., and Barabasi A.-L. The human disease network. Proc. Natl. Acad. Sci. USA 104 (2007) 8685-8690
33. Watson M.S., Lloyd-Puryear M.A., Mann M.Y., Rinaldo P., and Howell R.R. Main report genetics in medicine newborn screening: toward a uniform screening panel and system. Genet. Med. 8 (2006) 12S-252S
34. Simon E., Fingerhut R., Baumkötter J., Konstantopoulou V., Ratschmann R., and Wendel U. Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease. J. Inherit. Metab. Dis. V29 (2006) 532-537
35. Deodato F., Boenzi S., Rizzo C., Abeni D., Caviglia S., Picca S., Bartuli A., and Dionisi-Vici C. Inborn errors of metabolism: an update on epidemiology and on neonatal-onset hyperammonemia. Acta Paediatr. 93 (2004) 18-21
36. Boneh A., Beauchamp M., Humphrey M., Watkins J., Peters H., and Yaplito-Lee J. Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome. Mol. Genet. Metab. 94 (2008) 287-291
37. Sander J., Janzen N., Sander S., Steuerwald U., Das A.M., Scholl S., Trefz F.K., Koch H.-G., Haberle J., Korall H., Marquardt I., and Korenke C. Neonatal screening for citrullinaemia. Eur. J. Pediatr. 162 (2003) 417-420
38. Strauss K.A., Morton D.H., Puffenberger E.G., Hendrickson C., Robinson D.L., Wagner C., Stabler S.P., Allen R.H., Chwatko G., Jakubowski H., Niculescu M.D., and Mudd S.H. Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency. Mol. Genet. Metab. 91 (2007) 165-175
39. Gelb M.H., Turecek F., Scott C.R., and Chamoles N.A. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J. Inherit. Metab. Dis. 29 (2006) 397-404
40. Carducci C., Santagata S., Leuzzi V., Carducci C., Artiola C., Giovanniello T., Battini R., and Antonozzi I. Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry. Clin. Chim. Acta 364 (2006) 180-187
41. Hubbard W.C., Moser A.B., Tortorelli S., Liu A., Jones D., and Moser H. Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings. Mol. Genet. Metab. 89 (2006) 185-187
42. Kroll C.A., Ferber M.J., Dawson B.D., Jacobson R.M., Mensink K.A., Lorey F., Sherwin J., Cunningham G., Rinaldo P., Matern D., and Hahn S.H. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Mol. Genet. Metab. 89 (2006) 134-138
43. Carchon H.A., Nsibu Ndosimao C., Van Aerschot S., and Jaeken J. Use of serum on Guthrie cards in screening for congenital disorders of glycosylation. Clin. Chem. 52 (2006) 774-775
44. McGhee S.A., Stiehm E.R., Cowan M., Krogstad P., and McCabe E.R.B. Two-tiered universal newborn screening strategy for severe combined immunodeficiency. Mol. Genet. Metab. 86 (2005) 427-430
45. Vockley J. Newborn screening: after the thrill is gone. Mol. Genet. Metab. 92 (2007) 6-12
46. Lemieux B., Auray-Blais C., Giguère R., Shapcott D., and Scriver C.R. Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine. J. Inherit. Metab. Dis. 11 (1988) 45-55
47. Scriver C.R. The PAH gene, phenylketonuria, and a paradigm shift. Hum. Mutat. 28 (2007) 831-845
48. Jervis G.A. Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system. Proc. Soc. Exp. Biol. Med. 82 (1953) 514-515
49. Bickel H., Gerrard J., and Hickmans E.M. Influence of phenylalanine intake on phenylketonuria. Lancet 265 (1953) 812-813
50. Giovannini M., Verduci E., Salvatici E., Fiori L., and Riva E. Phenylketonuria: dietary and therapeutic challenges. J. Inherit. Metab. Dis. 30 (2007) 145-152
51. Levy H.L., Milanowski A., Chakrapani A., Cleary M., Lee P., Trefz F.K., Whitley C.B., Feillet F., Feigenbaum A.S., Bebchuk J.D., Christ-Schmidt H., and Dorenbaum A. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet 370 (2007) 504-510
52. Matalon R., Michals-Matalon K., Bhatia G., Burlina A.B., Burlina A.P., Braga C., Fiori L., Giovannini M., Grechanina E., Novikov P., Grady J., Tyring S.K., and Guttler F. Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine. J. Inherit. Metab. Dis. 30 (2007) 153-158
53. Sarkissian C.N. Enzyme therapy for PKU. In: Blau N. (Ed). PKU and BH4-Advances in Phenylketonuria and Tetrahydrobiopterin (2006), SPS Verlagsgesellschaft mbH, Heilbronn 350-369
54. Eavri R., and Lorberboum-Galski H. A novel approach for enzyme replacement therapy: the use of phenylalanine hydroxylase-based fusion proteins for the treatment of phenylketonuria. J. Biol. Chem. 282 (2007) 23402-23409
55. Harding C.O., Ding Z., and Thöny B. Gene and cell therapies for phenylketonuria (PKU). In: Blau N. (Ed). PKU and BH4-Advances in Phenylketonuria and Tetrahydrobiopterin (2006), SPS Verlagsgesellschaft mbH, Heilbronn 321-349
56. Ding Z., Harding C.O., Rebuffat A., Elzaouk L., Wolff J.A., and Thony B. Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system. Mol. Ther. 16 (2008) 673-681
57. O'Connor T.P., and Crystal R.G. Genetic medicines: treatment strategies for hereditary disorders. Nat. Rev. Genet. 7 (2006) 261-276
58. Brinkman R.R., Dube M.-P., Rouleau G.A., Orr A.C., and Samuels M.E. Human monogenic disorders-a source of novel drug targets. Nat. Rev. Genet. 7 (2006) 249-260
59. Wastfelt M., Fadeel B., and Henter J.I. A journey of hope: lessons learned from studies on rare diseases and orphan drugs. J. Intern. Med. 260 (2006) 1-10
60. Moore T.B., and McCabe E.R.B. National collaborative study groups: structure, benefits gained and potential for rare genetic diseases. Genet. Med. 8 (2006) 793-796