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A Case of Glutaric Aciduria Type I with a Novel Mutation

Year 2013, Volume: 38 Issue: 4, 809 - 812, 01.12.2013

Abstract

Glutaric aciduria type I is an autosomal recessive inherited disorder caused by the deficiency of glutaryl CoA dehydrogenase. The incidence of the disease is 1/100.000. Glutaryl CoA dehydrogenase gene is located on locus 19p13.2. More than 200 mutations have been described for this gene. Most common mutation in the population is C1240T. Clinical symptoms included neurological regression complications such as loss of sucking and swallowing reflexes choreoathetosis, seizures, rigidity and opisthotonos. In treatment high-carbohydrate, low-protein diet and carnitine is given. We would like to report this interesting case in order to present a new mutation for glutaric aciduria type I.

References

  • Rezvani I. Lysine. In: Nelson Textbook of Pediatrics, 17th Ed (Eds Behrman RE, Kliegman RM, Jenson HB). USA, Saunders. 2008; 429-30.
  • Hoffmann G.F, Kölker S. Cerebral organic acid disorders and other disorders of lysine catabolism. In: Inborn Metabolic Disesas, 5th Ed (Eds Walter SB). Germany, Springer, 2012; 337-42.
  • Campistol J, Ribes A, Alvarez L, Christensen E, Millington DS. Glutaric aciduria type I: Unusual biochemical presentation. J Pediatr. 1992; 121: 83-6. Kökler S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, et al. Natural history, outcome, and tretament efficacy in children and adults with glutaryl-CoA dehydrogenase defficiency. Pediatr Res. 2006; 59: 840-7.
  • Greenberg CR, Duncan AMV, Gregory CA et al. Assignment of human glutaryl-CoA dehydrogenase (GCDH) to the short arm of chrosome 19(19p13.2) by in situ hybridization and somatic cell hybrid analysis. Genomics. 1994; 21: 289.
  • Chen J, Wang ZX, Zhang JL, Yang YL, Chen J, Huang YN. Mutation analysis of GCDH gene in eight patients with glutaric aciduria type 1. Zhonghua Yi Xue Za Zhi. 2011; 28: 374-8.
  • Busquets C, Soriano M, Almeida IT, Garavaglia B, Rimoldi M, Rivera I, et al. Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type 1. Mol Genet Metab. 2000; 71: 535Manfound A, Dominguez CL, Rizzo C, Ribes A. In utero macrocephaly as clinical manifestation of glutaric aciduria type 1. Report of a novel mutation. Revista de Neurologia. 2004; 39: 939-42.
  • Park JD, Lim KJ, Hwang YS, Kim SK, Kang SH, Cho SI, et al. Glutaric aciduria type 1 in Korea: report of two novel mutations. J Korean Med Sci. 2010; 15: 957Yazışma Adresi / Address for Correspondence: Dr. Nilgün Uyduran Ünal
  • Çukurova Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı 01330 Balcalı-ADANA e-mail: nuyduran@gmail.com geliş tarihi/received :10.04.2013 kabul tarihi/accepted:13.05.2013

Glutarik Asidüri Tip 1 de Yeni Bir Mutasyon Tanımlanan Olgu Sunumu

Year 2013, Volume: 38 Issue: 4, 809 - 812, 01.12.2013

Abstract

Glutarik asidüri tip I glutaril KoA dehidrogenaz enziminin eksikliğine bağlı olarak gelişen ve otozomal resesif olarak kalıtılan bir metabolik hastalıktır. İnsidansı yaklaşık 1/ 100,000 dir. Glutaril KoA dehidrogenaz enziminin geni kromozom 19p13.2 dedir. Bu gende 200 farklı mutasyon tanımlanmıştır. Toplumda en sık görülen mutasyon C1240 T dir. Mutasyon tipi hastalığın fenotipini etkilemekle beraber aralarında kesin bir ilişki bulunamamıştır. Klinikte makrosefali, emme ve yutma reflekslerinin kaybolması, oturamama, koreatetoz, nöbetler, rijidite ve opistotonus gibi nörolojik regresyon bulguları vardır. Tedavide yüksek karbonhidratlı, düşük proteinli diyet ve karnitin verilir. Bizde glutarik asidüri tip I nedeniyle takibimize giren bir hastada daha önce tanımlanmamış bir mutasyonu saptadığımız için ilginç bularak bildirdik.

References

  • Rezvani I. Lysine. In: Nelson Textbook of Pediatrics, 17th Ed (Eds Behrman RE, Kliegman RM, Jenson HB). USA, Saunders. 2008; 429-30.
  • Hoffmann G.F, Kölker S. Cerebral organic acid disorders and other disorders of lysine catabolism. In: Inborn Metabolic Disesas, 5th Ed (Eds Walter SB). Germany, Springer, 2012; 337-42.
  • Campistol J, Ribes A, Alvarez L, Christensen E, Millington DS. Glutaric aciduria type I: Unusual biochemical presentation. J Pediatr. 1992; 121: 83-6. Kökler S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, et al. Natural history, outcome, and tretament efficacy in children and adults with glutaryl-CoA dehydrogenase defficiency. Pediatr Res. 2006; 59: 840-7.
  • Greenberg CR, Duncan AMV, Gregory CA et al. Assignment of human glutaryl-CoA dehydrogenase (GCDH) to the short arm of chrosome 19(19p13.2) by in situ hybridization and somatic cell hybrid analysis. Genomics. 1994; 21: 289.
  • Chen J, Wang ZX, Zhang JL, Yang YL, Chen J, Huang YN. Mutation analysis of GCDH gene in eight patients with glutaric aciduria type 1. Zhonghua Yi Xue Za Zhi. 2011; 28: 374-8.
  • Busquets C, Soriano M, Almeida IT, Garavaglia B, Rimoldi M, Rivera I, et al. Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type 1. Mol Genet Metab. 2000; 71: 535Manfound A, Dominguez CL, Rizzo C, Ribes A. In utero macrocephaly as clinical manifestation of glutaric aciduria type 1. Report of a novel mutation. Revista de Neurologia. 2004; 39: 939-42.
  • Park JD, Lim KJ, Hwang YS, Kim SK, Kang SH, Cho SI, et al. Glutaric aciduria type 1 in Korea: report of two novel mutations. J Korean Med Sci. 2010; 15: 957Yazışma Adresi / Address for Correspondence: Dr. Nilgün Uyduran Ünal
  • Çukurova Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı 01330 Balcalı-ADANA e-mail: nuyduran@gmail.com geliş tarihi/received :10.04.2013 kabul tarihi/accepted:13.05.2013
There are 8 citations in total.

Details

Primary Language Turkish
Journal Section Research
Authors

Nilgün Uyduran Ünal This is me

Deniz Kör This is me

Didem Yücel This is me

Gülen Gül Mert This is me

Neslihan Önenli Mungan This is me

Publication Date December 1, 2013
Published in Issue Year 2013 Volume: 38 Issue: 4

Cite

MLA Ünal, Nilgün Uyduran et al. “Glutarik Asidüri Tip 1 De Yeni Bir Mutasyon Tanımlanan Olgu Sunumu”. Cukurova Medical Journal, vol. 38, no. 4, 2013, pp. 809-12.