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Osorio, J. H. ., Osorio, D. ., & Castro, J. C. . (2019). Trastornos hereditarios del metabolismo de las pirimidinas y las purinas asociados a discapacidad intelectual. Biosalud, 18(1), 97–107. https://doi.org/10.17151/biosa.2019.18.1.8
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Autores/as
José Henry Osorio
Universidad de Caldas
Dulcinea Osorio
Clínica Psiquiátrica San Juan de DiosJuan Carlos Castro
Clínica Psiquiátrica San Juan de DiosResumen
Actualizar al lector en los trastornos hereditarios del metabolismo de pirimidinas y las purinas relacionadas con discapacidad intelectual. Materiales y métodos: Se analizó la literatura disponible de los últimos 60 años en las bases de datos BBCS-LILACS, PubMed, IB-PsycINFO, IB-SSCI, IB-SciELO, Scopus y Science Direct. Se seleccionaron 51 referencias, con base en la calidad de la evidencia presentada por las mismas. Resultados: Se obtuvo información pertinente relacionada con los objetivos propuestos en la presente revisión, por lo cual puede clasificarse en dos secciones a saber: alteraciones del metabolismo de las pirimidinas asociadas a retardo mental, alteraciones del metabolismo de las purinas asociadas a retardo mental. Conclusión: Los trastornos hereditarios del metabolismo de las purinas y pirimidinas son un grupo creciente de enfermedades, con las cuales el personal de la salud debe familiarizarse ante la necesidad de un abordaje clínico y de laboratorio específicos. Se hace necesario buscar la posible relación con este tipo de enfermedades en los pacientes que presenten retardo mental, con miras a ofrecer asesoría genética que beneficie a las familias de los pacientes que las sufren.
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Citas
1 Lodwig J, Peers K. Introduction to inherited metabolic diseases. Nurs Times 2013; 109 (46):28.
2 Sahota, AS, Tischfield, JA, Kamatani, N, Simmonds, HA. Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis.: In: Scriver, CR; Beaudet, AL; Sly, WS; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. New York: McGraw-Hill (8th ed.): 2001. Pp. 2571-2583.
3 Curry CJ, Stevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, et al. Evaluation of mental retardation: Recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet 1997; 72: 468-77.
4 Battaglia A, Bianchini E, Carey JC. Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry. Am J Med Genet 1999; 82: 60-6.
5 Kelley RE, Andersson HC. Disorders of purines and pyrimidines. Handb Clin Neurol 2014; 120:827- 38.
6 Kayser M. Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders. Semin Pediatr Neurol. 2008; 15(3):127-31.
7 Van Gennip AH, Abeling NG, Vreken P. van Gennip AH1, van Kuilenburg AB. Inborn errors of pyrimidine degradation: Clinical, biochemical and molecular aspects. J Inherit Metab Dis 1997; 20:203-13.
8 Smith LH. Pyrimidine metabolism in man. N Engl J Med 1973; 288:764-71.
9 Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, et al. Molecular cloning of the human UMP synthase gene and characterization of point muta-tions in two hereditary orotic aciduria families. Am J Hum Genet 1997; 60:525-39.
10 Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn CD, et al. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 2000; 47:792-800.
11 Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondria l DNA depletion myopathy. Nat Genet 2001; 29:342-44.
12 Valentine WN, Fink K, Paglia DE et al. (1974) Hereditary hemolytic anemia with human erythrocyte pyrimidine 5-nucleotidase deficiency. J Clin Invest 54:866-879.
13 Berger R, Stoker-de Vries SA, Wadman SK, Duran FA, Beemer PK, De Bree JJ, et al. Dihydropyrimidine dehydrogenase deficiency leading to thymine uraciluria. An inborn error of pyrimidine metabolism. Clin Chim Acta 1984; 141:227-34.
14 Van Kuilenburg AB, Vreken P, Abeling NG, Bakker HD, Meinsma R, Van Lenthe H, et al. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet 1999;
104:1-9.
15 Van Gennip AH, Abeling NGGM, Vreken P, van Kuilenburg ABP Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects. J Inherit Metab Dis 1997; 20: 203-213.
16 Tuchman M, Stoeckeler JS, Kiang DT, O’Dea RF, Ramnaraine ML, Mirkin BL. Familial pyrimidinemia and pyrimidinuria Associated with severe fluorouracil toxicity. N Engl J Med 1985; 313:
245-249.
17 Van Gennip AH, Driedijk PC, Elzinga A, Abeling NG. Screening for defects of dihydropyrimidine degradation by analysis of amino acids in urine before and after acid hydrolysis. J Inherit Metab Dis 1992; 15:413-415.
18 Van Kuilenburg ABP. Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil. Eur J Cancer 2004; 40:939-950.
19 Van Kuilenburg AB, Meinsma R, Zonnenberg BA, Zoetekouw L, Baas F, Matsuda K, et al. Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity. Clin Cancer Res 2003; 9: 4363- 67.
20 Duran M, Rovers P, de Bree PK, Schreuder CH, Beukenhorst H, Dorland L, et al. Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism. J Inherit Metab Dis. 1991; 14(3):367-70
21 Hamajima N, Kouwaki M, Vreken P, Matsuda K, Sumi S, Imaeda M, et al. Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human
dihydropyrimidinase gene. Am J Hum Genet 1998; 63:717-26.
22 Putman CW, Rotteveel JJ, Wevers RA, van Gennip AH, Bakkeren JA, De Abreu R. Dihydropyrimidinase deficiency: a progressive neurological disorder? Neuropediatrics 1997; 28: 106-110.
23 Van Kuilenburg AB1, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, et al. Beta-ureidopropionase deficiency: an inborn error or pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet 2004; 13:2793-2801.
24 Yaplito-Lee J, Pitt J, Meijer J, Zoetekouw L, Meinsma R, van Kuilenburg, ABP. Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems. Molec Genet Metab 2008; 93: 190-94.
25 Sun, Q. Urine Purine Metabolite Determination by UPLC-Tandem Mass Spectrometry. Clinical Applications of Mass Spectrometry in Biomolecular Analysis: Methods and Protocols; 2016, 227-235.
26 Castro-Gago M, Gomez-Lado C, Perez-Gay L, Eiris-Punal J, Martinez EP, Garcia-Consuegra I, et al. Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant. J. Child Neurol 2011; 26: 734-737.
27 Hershfield, MS. Genotype is an important determinant of phenotype in adenosine deaminase deficiency. Curr.Opin. Immun 2003; 15: 571-77
28 Mayaudon H, Burnat P, Eulry F, Payen C, Dupuy O, Ducorps M, Bauduceau B. La xanthinurie hereditaire, cause rare d’hypo-uricemie: 2 observations. Presse Med. 27: 661-663, 1998
29 Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am. J. Med 1964; 36: 561-70
30 Nyhan WL, Olivier WJ, Lesch, M. A familial disorder of uric acid metabolism and central nervous system function. J. Pediat 1965; 67: 257-63
31 Cervantes C, Villagrán J. Paciente con síndrome de Lesch-Nyhan atendido en el departamento de estomatología pediátrica del hospital de Tamaulipas. Rev odontológica Mexicana. 2008; 12(3): 154- 158.
32 Torres R, Garcia J. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: LeschNyhansíndrome. Orphanet j rare dis 2007; 2: 48-50.
33 Torres R, García J, Arcas J. Update on the phenotypic Spectrum of Lesch- Nyhan disease and its attenuated variants. Curr Rheumatol Rep.2012; 14 (2): 189-194.
34 De Antonio R, Torres-Jiménez A, Verdú-Pérez C, Prior de Castro J, García-Puig J. Tratamiento del síndrome de Lesch- Nyhan. Rev Neurol 2002; 35 (9): 877-883.
35 Jinnah HA, Sabina RL, Van Den Berghe G. Metabolic disorders of purine metabolism affecting the nervous system. Handb Clin Neurol. 2013; 113: 1827–1836.
36 Torres RJ, Puig JG, Ceballos-Picot I. Clinical utility gene card for: Lesch-Nyhan syndrome update. 2013; 21(10).
37 Nyhan WL. Lesch-Nyhan Disease and Related Disorders of Purine Metabolism Tzu Chi Med J 2007; 19 (3):105-8.
38 Yanes-Vallejera A, Monaga-Castillo M. Deficiencia de adenilosuccinato liasa: un breve repaso. Rev Biomed 2004; 15:243-250.
39 Poveda-Gutiérrez AG. Evaluación de una estrategia metodológica para tamizaje de errores innatos del metabolismo en una población colombiana. Pontificia Universidad Javeriana, Facultad de Ciencias, Carrera de Bacteriología Bogotá, noviembre de 2013. 81 pp.
40 Jaeken J, Wadman SK, Duran M, Van Sprang FJ, Beeper FA, Holl RA et al. Adenylosuccinatelyase deficiency: an inborn error of purine nucleotide synthesis. Eur J Pediatr 1988; 148:126-3.
41 Ciardo F, Salerno C, Curatolo P. Neurologic aspects of adenylosuccinatelyase deficiency. J Child Neurol 2001; 16:301-8
42 Becker MA, Puig JG, Mateos FA, Jimenez ML, Kim M, Simmonds HA. Inherited superactivity of phosphoribosylpyrophosphate synthetase: Association of uric acid overproduction and sensorineural deafness. Am J Med 1988; 85:383-390.
43 Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. The Metabolic and Molecular Bases of Inherited Disease. 8 ed., McGraw-Hill, New-York, 2001, p. 7012.
44 Sanjurjo P, Baldellou A, eds. Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias, 1.ª ed. Madrid: Ergón SA, 2001
45 Mitchel BS, Mejias E, Daddona PE, Kelley WN. Purinogenic immunodeficiency diseases: selective toxicity of deoxyribonucleosides for T-cells. Proc Nat AcadSci 1978; 75: 5011-14.
46 Ullman B, Gudas LJ, Clift SM, Martin DW Jr. Isolation and characterization of purine-nucleoside phosphorylase-deficient T-lymphoma cells and secondary mutants with altered ribonucleotide reductase: genetic model for immunodeficiency disease. Proc Nat AcadSci 1979; 76: 1074-78.
47 Markert ML. Purine nucleoside phosphorylase deficiency. Immunodef Rev 1991; 3: 45-81.
48 Aust MR, Andrews LG, Barrett MJ, Norby-Slycord CJ, Markert ML. Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. Am J HumGenet 1992; 51: 763-72.
49. Martin J, Sharma R, Nelson RP, Schubert F, Weida J. The First Report of a Pregnancy in a Patient with Purine Nucleoside Phosphorylase Deficiency. Fetal Pediatr Pathol. 2016; 35(2):120-3.
50. Castro M, Carrillo R, García F, Sanz P, Ferrer I, Ruiz-Sala P, et al. Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism. Nucleosides Nucleotides Nucleic Acids. 2014; 33(4-6):233-40.
2 Sahota, AS, Tischfield, JA, Kamatani, N, Simmonds, HA. Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis.: In: Scriver, CR; Beaudet, AL; Sly, WS; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II. New York: McGraw-Hill (8th ed.): 2001. Pp. 2571-2583.
3 Curry CJ, Stevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, et al. Evaluation of mental retardation: Recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet 1997; 72: 468-77.
4 Battaglia A, Bianchini E, Carey JC. Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry. Am J Med Genet 1999; 82: 60-6.
5 Kelley RE, Andersson HC. Disorders of purines and pyrimidines. Handb Clin Neurol 2014; 120:827- 38.
6 Kayser M. Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders. Semin Pediatr Neurol. 2008; 15(3):127-31.
7 Van Gennip AH, Abeling NG, Vreken P. van Gennip AH1, van Kuilenburg AB. Inborn errors of pyrimidine degradation: Clinical, biochemical and molecular aspects. J Inherit Metab Dis 1997; 20:203-13.
8 Smith LH. Pyrimidine metabolism in man. N Engl J Med 1973; 288:764-71.
9 Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, et al. Molecular cloning of the human UMP synthase gene and characterization of point muta-tions in two hereditary orotic aciduria families. Am J Hum Genet 1997; 60:525-39.
10 Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn CD, et al. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 2000; 47:792-800.
11 Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondria l DNA depletion myopathy. Nat Genet 2001; 29:342-44.
12 Valentine WN, Fink K, Paglia DE et al. (1974) Hereditary hemolytic anemia with human erythrocyte pyrimidine 5-nucleotidase deficiency. J Clin Invest 54:866-879.
13 Berger R, Stoker-de Vries SA, Wadman SK, Duran FA, Beemer PK, De Bree JJ, et al. Dihydropyrimidine dehydrogenase deficiency leading to thymine uraciluria. An inborn error of pyrimidine metabolism. Clin Chim Acta 1984; 141:227-34.
14 Van Kuilenburg AB, Vreken P, Abeling NG, Bakker HD, Meinsma R, Van Lenthe H, et al. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet 1999;
104:1-9.
15 Van Gennip AH, Abeling NGGM, Vreken P, van Kuilenburg ABP Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects. J Inherit Metab Dis 1997; 20: 203-213.
16 Tuchman M, Stoeckeler JS, Kiang DT, O’Dea RF, Ramnaraine ML, Mirkin BL. Familial pyrimidinemia and pyrimidinuria Associated with severe fluorouracil toxicity. N Engl J Med 1985; 313:
245-249.
17 Van Gennip AH, Driedijk PC, Elzinga A, Abeling NG. Screening for defects of dihydropyrimidine degradation by analysis of amino acids in urine before and after acid hydrolysis. J Inherit Metab Dis 1992; 15:413-415.
18 Van Kuilenburg ABP. Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil. Eur J Cancer 2004; 40:939-950.
19 Van Kuilenburg AB, Meinsma R, Zonnenberg BA, Zoetekouw L, Baas F, Matsuda K, et al. Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity. Clin Cancer Res 2003; 9: 4363- 67.
20 Duran M, Rovers P, de Bree PK, Schreuder CH, Beukenhorst H, Dorland L, et al. Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism. J Inherit Metab Dis. 1991; 14(3):367-70
21 Hamajima N, Kouwaki M, Vreken P, Matsuda K, Sumi S, Imaeda M, et al. Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human
dihydropyrimidinase gene. Am J Hum Genet 1998; 63:717-26.
22 Putman CW, Rotteveel JJ, Wevers RA, van Gennip AH, Bakkeren JA, De Abreu R. Dihydropyrimidinase deficiency: a progressive neurological disorder? Neuropediatrics 1997; 28: 106-110.
23 Van Kuilenburg AB1, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, et al. Beta-ureidopropionase deficiency: an inborn error or pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet 2004; 13:2793-2801.
24 Yaplito-Lee J, Pitt J, Meijer J, Zoetekouw L, Meinsma R, van Kuilenburg, ABP. Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems. Molec Genet Metab 2008; 93: 190-94.
25 Sun, Q. Urine Purine Metabolite Determination by UPLC-Tandem Mass Spectrometry. Clinical Applications of Mass Spectrometry in Biomolecular Analysis: Methods and Protocols; 2016, 227-235.
26 Castro-Gago M, Gomez-Lado C, Perez-Gay L, Eiris-Punal J, Martinez EP, Garcia-Consuegra I, et al. Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant. J. Child Neurol 2011; 26: 734-737.
27 Hershfield, MS. Genotype is an important determinant of phenotype in adenosine deaminase deficiency. Curr.Opin. Immun 2003; 15: 571-77
28 Mayaudon H, Burnat P, Eulry F, Payen C, Dupuy O, Ducorps M, Bauduceau B. La xanthinurie hereditaire, cause rare d’hypo-uricemie: 2 observations. Presse Med. 27: 661-663, 1998
29 Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am. J. Med 1964; 36: 561-70
30 Nyhan WL, Olivier WJ, Lesch, M. A familial disorder of uric acid metabolism and central nervous system function. J. Pediat 1965; 67: 257-63
31 Cervantes C, Villagrán J. Paciente con síndrome de Lesch-Nyhan atendido en el departamento de estomatología pediátrica del hospital de Tamaulipas. Rev odontológica Mexicana. 2008; 12(3): 154- 158.
32 Torres R, Garcia J. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: LeschNyhansíndrome. Orphanet j rare dis 2007; 2: 48-50.
33 Torres R, García J, Arcas J. Update on the phenotypic Spectrum of Lesch- Nyhan disease and its attenuated variants. Curr Rheumatol Rep.2012; 14 (2): 189-194.
34 De Antonio R, Torres-Jiménez A, Verdú-Pérez C, Prior de Castro J, García-Puig J. Tratamiento del síndrome de Lesch- Nyhan. Rev Neurol 2002; 35 (9): 877-883.
35 Jinnah HA, Sabina RL, Van Den Berghe G. Metabolic disorders of purine metabolism affecting the nervous system. Handb Clin Neurol. 2013; 113: 1827–1836.
36 Torres RJ, Puig JG, Ceballos-Picot I. Clinical utility gene card for: Lesch-Nyhan syndrome update. 2013; 21(10).
37 Nyhan WL. Lesch-Nyhan Disease and Related Disorders of Purine Metabolism Tzu Chi Med J 2007; 19 (3):105-8.
38 Yanes-Vallejera A, Monaga-Castillo M. Deficiencia de adenilosuccinato liasa: un breve repaso. Rev Biomed 2004; 15:243-250.
39 Poveda-Gutiérrez AG. Evaluación de una estrategia metodológica para tamizaje de errores innatos del metabolismo en una población colombiana. Pontificia Universidad Javeriana, Facultad de Ciencias, Carrera de Bacteriología Bogotá, noviembre de 2013. 81 pp.
40 Jaeken J, Wadman SK, Duran M, Van Sprang FJ, Beeper FA, Holl RA et al. Adenylosuccinatelyase deficiency: an inborn error of purine nucleotide synthesis. Eur J Pediatr 1988; 148:126-3.
41 Ciardo F, Salerno C, Curatolo P. Neurologic aspects of adenylosuccinatelyase deficiency. J Child Neurol 2001; 16:301-8
42 Becker MA, Puig JG, Mateos FA, Jimenez ML, Kim M, Simmonds HA. Inherited superactivity of phosphoribosylpyrophosphate synthetase: Association of uric acid overproduction and sensorineural deafness. Am J Med 1988; 85:383-390.
43 Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. The Metabolic and Molecular Bases of Inherited Disease. 8 ed., McGraw-Hill, New-York, 2001, p. 7012.
44 Sanjurjo P, Baldellou A, eds. Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias, 1.ª ed. Madrid: Ergón SA, 2001
45 Mitchel BS, Mejias E, Daddona PE, Kelley WN. Purinogenic immunodeficiency diseases: selective toxicity of deoxyribonucleosides for T-cells. Proc Nat AcadSci 1978; 75: 5011-14.
46 Ullman B, Gudas LJ, Clift SM, Martin DW Jr. Isolation and characterization of purine-nucleoside phosphorylase-deficient T-lymphoma cells and secondary mutants with altered ribonucleotide reductase: genetic model for immunodeficiency disease. Proc Nat AcadSci 1979; 76: 1074-78.
47 Markert ML. Purine nucleoside phosphorylase deficiency. Immunodef Rev 1991; 3: 45-81.
48 Aust MR, Andrews LG, Barrett MJ, Norby-Slycord CJ, Markert ML. Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. Am J HumGenet 1992; 51: 763-72.
49. Martin J, Sharma R, Nelson RP, Schubert F, Weida J. The First Report of a Pregnancy in a Patient with Purine Nucleoside Phosphorylase Deficiency. Fetal Pediatr Pathol. 2016; 35(2):120-3.
50. Castro M, Carrillo R, García F, Sanz P, Ferrer I, Ruiz-Sala P, et al. Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism. Nucleosides Nucleotides Nucleic Acids. 2014; 33(4-6):233-40.
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