Aciduria glutárica tipo I
Descripción del primer caso clínico nacional
Palabras clave:
ERRORES INNATOS DEL METABOLISMO DE LOS AMINOÁCIDOS
Resumen
Presentamos el primer caso nacional de un niño portador de una aciduria glutárica tipo I.
Esta afección es un error congénito del metabolismo de los aminoácidos esenciales lisina y triptofano determinado por la deficiencia de la enzima mitocondrial glutaril-coenzima A deshidrogenasa, y en nuestro paciente se presenta como la forma clásica de la enfermedad con síntomas neurológicos de instalación aguda que involucran principalmente el sistema extrapiramidal. El diagnóstico se realiza al evidenciar la presencia del ácido 3-hidroxiglutárico, específico de esta afección. El tratamiento está dirigido a evitar el compromiso neurológico en los casos asintomáticos ya que una vez instalado el daño neurológico es irreversible.
Citas
1) Prats Viñas J. Aciduria glutárica tipo 1: acidemia orgánica sin acidosis y con graves trastornos del movimiento. Neurología 2001; 16(8): 337-41.
2) Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC. Glutaric aciduria: a "new" disorders of amino acid metabolism. Biochem Med 1975; 12(1): 12-21.
3) Goodman S, Frerman F. Organic acidemias due to Defectos in Lysine Oxidation: 2-Ketoadipic Acidemia and Glutaric Acidemia. In: Scriver CR, Beaudet AL, Sly WS and Valle D, eds. The metabolic and molecular bases of inherited diseases. 8 ed. New York: McGraw-Hill, 2001: 2195-204.
4) Hoffmann GF, Zschocke J. Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy. J Inherit Metab Dis 1999; 22(4): 381-91.
5) Hoffmann GF. Glutaric aciduria type l and related cerebral organic acid disorders. In: Fernandes J, Saudubray JM, Van der Berghe G, eds. Inborn metabolic diseases: diagnosis and treatment. Berlín: Springer-Verlag, 1996: 229-36.
6) Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JBC, Lehnert W, et al. Clinical course, early diagnosis, treatment and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 1996; 27(3): 115-23.
7) Kölker S, Hoffmann GF. Glutaryl-CoA dehydrogenase deficiency. Orphanet encyclopedia, june 2001. http://www.orphanet.infobiogen.fr/data/patho/gb/uk-gdd.html. [consulta: ago 2003].
8) Schwartz M, Christensen E, Superti-Furga A, Brandt NJ. The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria typeI. Hum Genet 1998; 102(4): 452-8.
9) Goodman SI, Stein DE, Schlesinger S, Christensen E, Schwartz M, Greenberg CR, et al. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. Hum Mutat 1998; 12(3): 141-4.
10) Ikeda H, Kimura T, Ikegami T, Kato M, Matsunaga A, Yokoyama S, et al. Novel mutations of the Glutaryl-CoA dehydrogenase gene in two japanese patients with Glutaric Aciduria type I. Am J Med Genet 1998; 80(4): 327-9.
11) Superti-Furga A, Hoffmann GF. Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency): advances and unanswered questions. Report form an international meeting. Eur J Pediatr 1997; 156(11): 821-8.
12) Chamoles N. Encefalopatías evolutivas. Errores congénitos del metabolismo. In: Fejerman N, Fernández Álvarez E. Neurología pediátrica. 2ª ed. Buenos Aires: Médica Panamericana, 1997: 326-7.
13) Bjugstad KB, Goodman SI, Freed CR. Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1. J Pediatr 2000; 137(5): 681-6.
14) Merinero B, Pérez-Cerdá C, Font LM, García MJ, Aparicio M, Lorenzo G, et al. Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency. Neuropediatrics 1995; 26(5): 238-42.
15) Haworth JC, Booth FA, Chudley AE, deGroot GW, Dilling LA, Goodman SI, et al. Phenotypic variability in glutaric aciduria type I: report of fourteen cases in five Canadian Indian kindreds. J Pediatr 1991; 118(1): 52-8.
16) Hoffmann G, Trefz FK, Barth PG, Böhles HJ, Lehnert W, Christensen E, et al. Macrocephaly: an important indication for organic acid analysis. J Inherit Metab Dis 1991; 14(3): 329-32.
17) Aurebach VH. Errores innatos del metabolismo. In: Nelson WE. Tratado de Pediatría. 15º ed. Barcelona: Salvat, 1997: 509-16.
18) Amir N, Elpeleg ON, Shalev RS, Christensen E. Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds. J Pediatr 1989; 114(6): 983-9.
19) Mandel H, Braun J, el-Peleg O, Christensen E, Berant M. Glutaric aciduria type I: brain CT features and a diagnostic pitfall. Neuroradiology 1991; 33(1): 75-8.
20) Corral I, Martínez Castrillo JC, Martínez-Pardo M, Gimeno A. Aciduria glutárica tipo l: diagnóstico en el adulto y variabilidad fenotípica. Neurología 2001; 16(8): 377-80.
21) Baric I, Wagner L, Feyh P, Liesert M, Buckel W, Hoffmann GF. Sensitivity and apecificity of free and total glutaric acid and 3-hydroxyglutaric acid mesurements by stable-isotope dilution assays for diagnosis of glutaric aciduria type I. J Inherit Metab Dis 1999: 22(8): 867-82.
22) Castro-Gago M, Novo-Rodríguez M, Eiris-Puñal J. Tratamiento de las enfermedades mitocondriales durante la infancia y adolescencia. Rev Neurol 1998; 26(supl 1): S92-8.
23) Ledesma F, Bay L, Halac A, Tenenbaum S, Acevedo E, Quintana S. Actitudes médicas en niños con errores congénitos del metabolismo y daño neurológico severo al momento del diagnóstico. Arch Argent Pediatr 2002; 100(2): 142-7.
24) Busquets C, Merinero B, Christensen E, Gelpí JL, Campistol J, Pineda M, et al. Glutaryl CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically and biochemically distinct. Pediatr Res 2000; 48(3): 315-22.
2) Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC. Glutaric aciduria: a "new" disorders of amino acid metabolism. Biochem Med 1975; 12(1): 12-21.
3) Goodman S, Frerman F. Organic acidemias due to Defectos in Lysine Oxidation: 2-Ketoadipic Acidemia and Glutaric Acidemia. In: Scriver CR, Beaudet AL, Sly WS and Valle D, eds. The metabolic and molecular bases of inherited diseases. 8 ed. New York: McGraw-Hill, 2001: 2195-204.
4) Hoffmann GF, Zschocke J. Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy. J Inherit Metab Dis 1999; 22(4): 381-91.
5) Hoffmann GF. Glutaric aciduria type l and related cerebral organic acid disorders. In: Fernandes J, Saudubray JM, Van der Berghe G, eds. Inborn metabolic diseases: diagnosis and treatment. Berlín: Springer-Verlag, 1996: 229-36.
6) Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JBC, Lehnert W, et al. Clinical course, early diagnosis, treatment and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 1996; 27(3): 115-23.
7) Kölker S, Hoffmann GF. Glutaryl-CoA dehydrogenase deficiency. Orphanet encyclopedia, june 2001. http://www.orphanet.infobiogen.fr/data/patho/gb/uk-gdd.html. [consulta: ago 2003].
8) Schwartz M, Christensen E, Superti-Furga A, Brandt NJ. The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria typeI. Hum Genet 1998; 102(4): 452-8.
9) Goodman SI, Stein DE, Schlesinger S, Christensen E, Schwartz M, Greenberg CR, et al. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. Hum Mutat 1998; 12(3): 141-4.
10) Ikeda H, Kimura T, Ikegami T, Kato M, Matsunaga A, Yokoyama S, et al. Novel mutations of the Glutaryl-CoA dehydrogenase gene in two japanese patients with Glutaric Aciduria type I. Am J Med Genet 1998; 80(4): 327-9.
11) Superti-Furga A, Hoffmann GF. Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency): advances and unanswered questions. Report form an international meeting. Eur J Pediatr 1997; 156(11): 821-8.
12) Chamoles N. Encefalopatías evolutivas. Errores congénitos del metabolismo. In: Fejerman N, Fernández Álvarez E. Neurología pediátrica. 2ª ed. Buenos Aires: Médica Panamericana, 1997: 326-7.
13) Bjugstad KB, Goodman SI, Freed CR. Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1. J Pediatr 2000; 137(5): 681-6.
14) Merinero B, Pérez-Cerdá C, Font LM, García MJ, Aparicio M, Lorenzo G, et al. Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency. Neuropediatrics 1995; 26(5): 238-42.
15) Haworth JC, Booth FA, Chudley AE, deGroot GW, Dilling LA, Goodman SI, et al. Phenotypic variability in glutaric aciduria type I: report of fourteen cases in five Canadian Indian kindreds. J Pediatr 1991; 118(1): 52-8.
16) Hoffmann G, Trefz FK, Barth PG, Böhles HJ, Lehnert W, Christensen E, et al. Macrocephaly: an important indication for organic acid analysis. J Inherit Metab Dis 1991; 14(3): 329-32.
17) Aurebach VH. Errores innatos del metabolismo. In: Nelson WE. Tratado de Pediatría. 15º ed. Barcelona: Salvat, 1997: 509-16.
18) Amir N, Elpeleg ON, Shalev RS, Christensen E. Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds. J Pediatr 1989; 114(6): 983-9.
19) Mandel H, Braun J, el-Peleg O, Christensen E, Berant M. Glutaric aciduria type I: brain CT features and a diagnostic pitfall. Neuroradiology 1991; 33(1): 75-8.
20) Corral I, Martínez Castrillo JC, Martínez-Pardo M, Gimeno A. Aciduria glutárica tipo l: diagnóstico en el adulto y variabilidad fenotípica. Neurología 2001; 16(8): 377-80.
21) Baric I, Wagner L, Feyh P, Liesert M, Buckel W, Hoffmann GF. Sensitivity and apecificity of free and total glutaric acid and 3-hydroxyglutaric acid mesurements by stable-isotope dilution assays for diagnosis of glutaric aciduria type I. J Inherit Metab Dis 1999: 22(8): 867-82.
22) Castro-Gago M, Novo-Rodríguez M, Eiris-Puñal J. Tratamiento de las enfermedades mitocondriales durante la infancia y adolescencia. Rev Neurol 1998; 26(supl 1): S92-8.
23) Ledesma F, Bay L, Halac A, Tenenbaum S, Acevedo E, Quintana S. Actitudes médicas en niños con errores congénitos del metabolismo y daño neurológico severo al momento del diagnóstico. Arch Argent Pediatr 2002; 100(2): 142-7.
24) Busquets C, Merinero B, Christensen E, Gelpí JL, Campistol J, Pineda M, et al. Glutaryl CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically and biochemically distinct. Pediatr Res 2000; 48(3): 315-22.
Publicado
2004-12-31
Cómo citar
1.
Barreiro A, Rey A, González G, Lemes A, Galiana Álvaro, Peluffo L. Aciduria glutárica tipo I. Rev. Méd. Urug. [Internet]. 31 de diciembre de 2004 [citado 25 de noviembre de 2024];20(3):221-7. Disponible en: https://www2.rmu.org.uy/ojsrmu311/index.php/rmu/article/view/909
Sección
Casos Clínicos
