Glutaric aciduria type I
Description of the first national clinical case
Keywords:
INBORN ERRORS OF AMINO ACID METABOLISM
Abstract
The first national clinical case of a child carrier a type I glutaric aciduria is reported on this paper. Type I glutaric aciduria is an inherited genetic disorder caused by a defect deshydrogenase mytocondrial glutaric-coenzime A, responsible for the metabolism of the amino acids lysine and tryptophan. The child presented with the classical form of the disease with neurologic symptoms involving the extrapiramidal system. 3-hydroxiglutaric acid defines diagnose, since it is specific to this affection. Treatment aims to prevent neurologic commitment in asymptomatic cases since brain damage is irreversible.
References
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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.
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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.
Published
2004-12-31
How to Cite
1.
Barreiro A, Rey A, González G, Lemes A, Galiana Álvaro, Peluffo L. Glutaric aciduria type I. Rev. Méd. Urug. [Internet]. 2004Dec.31 [cited 2024Nov.25];20(3):221-7. Available from: https://www2.rmu.org.uy/ojsrmu311/index.php/rmu/article/view/909
Section
Clinical Cases
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