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2009, Número 3

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Acta Pediatr Mex 2009; 30 (3)


Frecuencia de enfermedades metabólicas congénitas susceptibles de ser identificadas por el tamiz neonatal

Vela-Amieva M, Belmont-Martínez L, Fernández-Lainez C, Ramírez-Frías C, Ibarra-González I

Idioma: Español
Referencias bibliográficas: 71
Paginas: 156-162
Archivo PDF: 535.68 Kb.


RESUMEN

Los errores innatos del metabolismo (EIM), también conocidos como enfermedades metabólicas hereditarias son un grupo heterogéneo de enfermedades congénitas. En la actualidad muchas de ellas se pueden detectar de manera temprana mediante el tamiz neonatal. En México, los EIM han sido poco estudiados y se desconoce su frecuencia. El objetivo del presente escrito es compilar la frecuencia de algunas enfermedades congénitas: EIM y endocrinopatías, que pueden detectarse mediante el tamiz neonatal. Revisión de la literatura, de las bases PubMed, Artemisa. MediciLatina. Se encontró información sobre la frecuencia de 57 enfermedades. En orden de mayor a menor frecuencia están los trastornos endocrinológicos, el más común de los cuales es el hipotiroidismo congénito, que se observa en 1:2,000 recién nacidos (RN). Entre los EIM destacan por su frecuencia la fibrosis quística que se presenta en 1:3,721 y la anemia de células falciformes, que va de 1:3,721 a 1:5,000 RN. Observamos que la frecuencia de estas enfermedades tiene importantes variaciones poblacionales. Es necesario que en nuestro país, se realicen estudios sobre la frecuencia de las enfermedades congénitas detectables mediante el tamiz neonatal, para tener un panorama epidemiológico propio, que ayude a tomar mejores decisiones sobre el grupo de pruebas analíticas recomendables de tamiz neonatal.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Jouvet P, Touati G, Lesage F, Dupic L, Tucci M, Saudubray JM, et al. Impact of inborn errors of metabolism on admission and mortality in a pediatric intensive care unit. Eur J Pediatr 2007;166:461-5.

  2. Saudubray JM, Nassogne MC, de Lonlay P, Touati G. Clinical approach to inherited metabolic disorders in neonates: an overview. Semin Neonatol 2002;7(1):3-15.

  3. Beaudet AL, Scriver CR, Sly WS, Valle D. Molecular bases of variant human phenotypes. En Scriver CR, Beaudet AL, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001. p. 3-51.

  4. Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 2000;105:e10.

  5. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-54.

  6. Raghuveer TS, Garg U, Graf WD. Inborn errors of metabolism in infancy and early childhood: an update. Am Fam Physician 2006;73(11):1981-90.

  7. Izquierdo Martínez M, Avellaneda Fernandez A. eds. Enfermedades raras, un enfoque práctico. Instituto de Salud Carlos III. Madrid: 2004. p. 951.

  8. Green NS, Dolan SM, Murray TH. Newborn screening: Complexities in Universal Genetic Testing. Am J Pub Health 2006;96(11):1955-9.

  9. Vela M, Gamboa S, Loera-Luna A, Aguirre BE, Pérez-Palacios G, Velázquez A. Neonatal screening for congenital hypothyroidism in Mexico: experience, obstacles, and strategies. J Med Screen 1999;6(2):77-9.

  10. Torres-Sepúlveda M del R, Martínez-de Villarreal LE, Esmer C, González-Alanís R, Ruiz-Herrera C, Sánchez-Peña A et al. Expand newborn screening using tandem mass spectrometry: two years’ experience in Nuevo León, Mexico. Salud Pub Mex 2008;50(3):200-6.

  11. Vela-Amieva M, Gamboa-Cardiel S, Pérez-Andrade ME, Ortiz-Cortés J, González-Contreras CR, Ortega-Velázquez V. Epidemiología del hipotiroidismo congénito en México. Salud Pub Mex 2004;46(2):141-8.

  12. Spence WC, Paulus-Thomas J, Orenstein DM, Naylor EW. Molecular confirmation of α-1-antitrypsin genotypes in newborn blood specimens. Biochem Med Met Biol 1993;50:233-40.

  13. O’Brien ML, Buist NR, Murphey WH. Neonatal screening for alpha-1-antitrypsin deficiency. J Pediatr 1978;92:1006-10.

  14. NIH Consensus Development Conference Statement. Genetic testing for cystic fibrosis. Arch Intern Med 1999;159:1529-39.

  15. Weatherall DJ, Clegg JB, Higgs DR, Wood WG. The hemoglobinopathies. En Scriver CR, Beaudet AL, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease, 8 ed. New York: McGraw-Hill; 2001. p. 4571-626.

  16. Maclaren NK, Kukreja A. Type I Diabetes. En: Scriver CR et al. Eds. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001. p. 1471-88.

  17. Wang SS, Fernhoff PM, Hannon WH, Khoury MJ. Medium chain acyl-CoA dehidrogenase deficiency human genome epidemiology review. Genetics in Medicine 1999;1:332-9.

  18. Donohoue PA, Parker KL, Migeon C. Congenital Adrenal Hyperplasia. En: Scriver CR et al, Eds. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001. p. 4077-113.

  19. Pang S, Wallace MA, Hofman L, Thuline MA, Dorche C, Lyon ICT, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydorxylase deficiency. Pediatrics 1988;81:866-71.

  20. Silveira EL, Dos SE, Bachega TA, van der Linden Nader I, Gross JL, et al. The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred--an estimate based on a public neonatal screening program in the state of Goiás. J Pediatr Endocrinol Metab 2008;21(5):455-60.

  21. Brusilow SW, Horwich AL. Urea Cycle Enzymes. En: Scriver CR, Beaudet AL, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001. p. 1909-63.

  22. National Newborn Screening and Genetics Resource Center (NNSGRC). Current newborn conditions by state. Genes-r-us. uthscsa.edu.

  23. Luzzatto L, Mehta A, Vulliamy T. Glucose 6-phosphate Dehydrogenase Deficiency. En: Scriver CR, Beaudet AL, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001. p. 4517-53.

  24. Williams S, Maude GH, Serjeant GR. Clinical presentation of sickle cell-hemoglobin C disease. J Pediatr 1986;109(4):586-9.

  25. Almeida AM, Henthorn JS, Davies SC. Neonatal screening for haemoglobinopathies: the results of a 10-year programme in an English Health Region. Brit J Haematol 2001;112:32-5.

  26. Howell R, Krishnani P. Pompe disease in infants and children. J Pediatr 2004;144:S35-43.

  27. Desnick RJ, Ioannou YA, Eng CM. Alfa-galactosidase A deficiency: Fabry Disease. En: Scriver CR, Beaudet AL, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001. p. 3733-74.

  28. Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM et al. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England newborn screening program. Clin Chem 2001;47:1945-55.

  29. Janošík M, Sokolová J, Janošíková B, Krijt J, Klatovská V, Kožich V. Birth Prevalence of homocystinuria in Central Europe: Frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene. J Pediatr 2008;154:431-2.

  30. Gaustadnes M, Ingerslev J, Rütiger N. Prevalence of congenital homocystinuria in Denmark. N Engl J Med 1999;340:1513.

  31. Sokolová J, Janosíková B, Terwilliger JD, Freiberger T, Kraus JP, Kozich V. Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles. Hum Mutat 2001;18(6):548-9.

  32. Refsum H, Fredriksen A, MeyerK, Ueland PM, Kase BF. Birth prevalence of homocystinuria. J Pediatr 2004;144:830-2.

  33. Fenton WA, Gravel RA, Rosenblatt DS. Disorders of propionate and methylmalonate metabolism. En: Scriver CR, Beaudet AL, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001. p. 2165-93.

  34. Goodman SI, Freeman FE. Organic Acidemias due to defects in lysine oxidation: 1.ketoadipic acidemia and glutaric acidemias. En: Scriver CR, Beaudet AL, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001. p. 2195-204.

  35. Holton JB, Walter JH, Tyfield LA. Galactosemia. En: Scriver CR et al. Eds. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001. p. 1553-87.

  36. Wolf B. Worldwide survey of neonatal screening for biotinidase deficiency. J Inherit Metab Dis 1991;14:9.

  37. Brusilow SW. Urea cycle disorders: clinical paradigm of hyperammonemic encephalopathy. Prog Liver Dis 1995;293-309.

  38. Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implication. Pediatrics 2003;111:1399-406.

  39. Sweetman L, Williams JC. Branched Chain Organic Acidurias. En: Scriver CR, Beaudet AL, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001. p. 2125-63.

  40. Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Ann Rev Physiol 2002;64:477-502.

  41. Roe CR, Ding J. Mitochondrial fatty acid oxidation disorders. En: Scriver CR, Beaudet AL, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001. p. 2297-326.

  42. Lowry RB, Applegarth DA, Toone JR, MacDonald E, Thunem NY. An update on the frequency of mucopolysaccharide syndromes in British Columbia. Hum Genet 1990;85:389-90.

  43. Primary immunodeficiency diseases. Report of WHO scientific group. Clin Exp Immunol 1977;109(suppl 1): 1.

  44. Wolf B. Disorders of biotin metabolism. En: Scriver CR, Beaudet AL, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001. p. 3935-62.

  45. De Braekeleer M, Larochelle J. Genetic epidemiology of hereditary tyrosinemia in Quebec and Saguenay-Lac-St.Jean. Am J Hum Genet 1990;47:302-7.

  46. Halvorsen S. Screening for disorders of tyrosine metabolism. In Bickel H et al. Eds. Neonatal screening for inborn errors of metabolism. Berlin: Springer Verlag; 1980. p. 45-7.

  47. Brusilow SW, Maestri NE. Urea cycle disorders: diagnosis, pathophysiology, and therapy. Adv Pediatr 1996;43:127-70.

  48. Mudd SH, Levy H, Kraus JP. Disorders of transsulfuration. En: Scriver CR, Beaudet AL, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001. p. 2007-56.

  49. Marshall L, DiGeorge A. Maple syrup urine disease in old order Mennonites. Am J Hum Genet 1981;33:139A.

  50. Puffenberg EG. Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. Am J Med Genet C Semin Med Genet 2003 Aug 15;121C(1):18-31.

  51. Shintaky H. Disorders of tetrahydrobiopterin metabolism and their treatment. Curr Drug Metab 2002;3:123-31.

  52. Mitchell GA, Grompe M, Lambert M, Tanguay RM. Hypertyrosinemia. En: Scriver CR, Beaudet AL, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001. p. 1777-805.

  53. Stanley CA, Hale DE, Berry GT, Deleeuw S, Boxer J, Bonnefont JP. A deficiency of carnitine-acylcarnitine-translocase in the inner mitochondrial membrane. N Engl J Med 1992;327:19-23.

  54. Chalmers RA, Stanley CA, English N, Wigglesworth JS. Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. J Pediatr 1997;131(2):220-5.

  55. Prasad C, Johnson JP, Bonnefont JP, Dilling LA, Innes AM, Haworth JC, et al. Hepatic carnitine Palmitoyil Transferase 1 (CPT1a) deficiency in North American Hutterites (Canadian and American): Evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program. Mol enet Metab 2001;73(1):55-63.

  56. Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med 2004;25(5- 6):495-520.

  57. Wilcken B, Wiley V, Sim KG, Carpenter K. Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry. J Pediatr 2001;138 (4):581-4.

  58. Goodman SI, Binard RJ, Woontner MR, Frerman FE. Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) gene. Mol Genet Metab 2002;77(1-2):86-90.

  59. Treacy EP, Lambert DM, Barnes R, Boriack RL, Vockley J, O’brien LK, et al. Short-chain hydroxyacyl-coenzime A dehydrogenase deficiency presenting as unexpected infant death: a family study. J Pediatr 2000;137(2):257-9.

  60. Kamijo T, Indo Y, Souri M, Aoyama T, Hara T, Yamamoto S, et al. Medium chain 3-ketoacyl-coenzime A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. Pediatr Res 1997;42(5):569-76.

  61. Matern D, Strauss AW, Hillman SL, Mayatepek E, Millington DS, Trefz FK. Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis. Pediatr Res 1999;46(1):45-9.

  62. Gibson KM, Burlingame TG, Hogema B, Jakobs C, Schutgens RB, Millington D, et al. 2-methylbutiril-coenzime A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res 2000;47:830-3.

  63. Zschocke J, Ruiter JP, Brand J, Lindner M, Hoffmann GF, Wanders RJ, et al. Progressive infantile neurodegeneration caused by 2-methyl-3 hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatr Res 2000;48(6):852-5.

  64. Mitchell GA, Fukao T. Inborn errors of ketone body metabolism. En: Scriver CR, Beaudet AL, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001. p. 2327-56.

  65. Wenger DA. Krabbe disease: genetic aspects and progress toward therapy. Molec Gen Metab 2000;70:1-9.

  66. de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, et al. A broad spectrum of clinical presentations in congenital disorders of glycosilation I: a series of 26 cases. J Med Genet 2001;38:14-19.

  67. Gahl W, Thoene J, Schneider J. Cystinosis. N Eng J Med 2002;347(2):111-21.

  68. Hirschfeld AI, Fleischman JK. An unusually high incidence of salt losing congenital adrenal hyperplasia in the Alaskan Eskimo. J Pediatr 1969;75:492.

  69. Patterson MC, Vanier MT, Suzuki K, et al. Niemann-Pick disease type C: a lipid trafficking disorder. In: The metabolic and Molecular Basis of Inherited Diseases. 8th Ed. New York: McGraw-Hill; 2001. p. 3611-33.

  70. Guldberg P, Friis Henriksen K, Sipila I, Guttler F, de la Chapelle A. Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland. J Med Genet 1995;32:976-8.

  71. Deshpande O, Batzoglou S, Feldman MW, Cavalli-Sforza L. A serial founder effect model for human settlement out of Africa. Proc Biol Sci 2009;276(1655):291-30.




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