A Case of Glutaric Aciduria Type I with a Novel Mutation
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.
Keywords
Kaynakça
- 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
