Glutaric aciduria type I
Description of the first national clinical case
Keywords:
INBORN ERRORS OF AMINO ACID METABOLISMAbstract
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
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.
Downloads
Published
2004-12-31
How to Cite
1.
Barreiro A, Rey A, González G, Lemes A, Galiana Álvaro, Peluffo L. Glutaric aciduria type I: Description of the first national clinical case. Rev. Méd. Urug. [Internet]. 2004 Dec. 31 [cited 2024 Nov. 21];20(3):221-7. Available from: https://revista.rmu.org.uy/index.php/rmu/article/view/909
Issue
Section
Clinical Cases
