Olgu Sunumu
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Uzun Süre Takipli Glutarik Asidüri Tip 1 Olgusunda Beslenme Programının Önemi: Olgu Sunumu

Yıl 2022, Cilt: 2 Sayı: 2, 283 - 288, 22.08.2022

Öz

Glutarik asidüri tip 1 otozomal resesif geçişli kalıtsal bir nörometabolik hastalıktır. Lizin, triptofan ve hidroksilizin katabolizmasında etkili olan glutaril CoA dehidrogenaz enzim aktivite eksikliği ya da enzim eksikliği ile karakterizedir. Katabolize olamayan amino asitlerin metabolizması sonucu çeşitli dokularda ve beyinde glutarik asit, 3-OH glutarik asit, glutaril karnitin gibi toksik metabolitler birikir. Beynin bazal gangliyonlarına etki ederek çeşitli hasarlara yol açabilmektedir. Prevalansı bölgelere göre değişmekle birlikte genel popülasyonda 1:110.000 olarak belirlenmiştir. Hastalığın erken teşhisi kalıcı nörolojik hasarları önleyebilirken aynı zamanda hastalığa bağlı mortalite ve morbiditeyi azaltabilmektedir. Hastalığın tedavisinde ise düşük proteinli beslenme programı ve karnitin takviyesi bulunmaktadır. Tıbbi beslenme tedavisinin düzenli takibinin distonik hareket bozukluklarının, ensefalopatik kriz riskinin ve nörolojik hasarların azalmasında etkili olduğu belirtilmektedir. Hastaların yaşam boyu kullanacakları beslenme programının hastaya bütün detayları ile anlatılması hayati önem taşımaktadır.

Kaynakça

  • Bernstein, L (2015). Nutrition Management of Glutaric Acidemia Type 1. L.E. Bernstein et al. (eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, Chapter 19. p: 211-220.
  • Boy, N., Garbade, S. F., Heringer, J., Seitz, A., Kölker, S., & Harting, I (2019). Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1. Journal of Inherited Metabolic Disease, 42(1), 117–127. https://doi.org/ 10.1002/jimd.12033.
  • Boy, N., Mühlhausen, C., Maier, E. M., Heringer, J., Assmann, B., Burgard, P., …, Kölker, S (2017). Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis, 40(1):75–101. https://doi.org/10.1007/s10545-016-9999-9.
  • Christensen, E (1993). A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: application in the genotyping of the glutaryl-CoA dehydrogenase locus. Clin Chim Acta, 1993; 220: 71-80.
  • Dwyer, T. M., Rao, K. S., Goodman, S. I., & Frerman, F. E (2000). Proton abstraction reaction, steady‐state kinetics, and oxidation –reduction potential of human glutaryl‐CoA dehydrogenase. Biochemistry, 39: 11488‐ 11499. https://doi.org/10.1021/bi000700g.
  • Funk, C. B., Prasad, A. N., Frosk, P., Sauer, S., Kölker, S., Greenberg, C. R., & Del Bigio, M. R (2005). Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. Brain, 128(Pt 4):711-22. https://doi.org/10.1093/brain/awh401.
  • Govender, R., Mitha, A., & Mubaiwa, L (2017). A review of patients with glutaric aciduria type 1 at Inkosi Albert Luthuli Central Hospital, Durban, South Africa. SAMJ, 107 (3): 201-204. https://doi.org/10.7196/SAMJ.2017.v107i3.11332.
  • Greenberg, G. R., Reimer, D., Singal, R., Triggs-Raine, B., Chudley, A. E., …, Goodman, S. I (1995). A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type 1. Hum Mol Genet, 4: 493-5.
  • Heringer, J., Boy, S. P., Ensenauer, R., Assmann, B., Zschocke, J., …, Kölker, S (2010). Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol, 68:743-752. https://doi.org/10.1002/ana.22095.
  • Hoffmann, G. F., Athanassopoulos, S., Burlina, A. B., Duran, M., de Klerk, J. B., …, Christensen, E (1996). Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics, 1996; 27:115.
  • Kölker, S., Ahlemeyer, B., Krieglstein, J., & Hoffmann, G. F (2000). Maturationdependent neurotoxicity of 3-hydroxyglutaric and glutaric acids in vitro: a new pathophysiologic approach to glutaryl-CoA dehydrogenase deficiency. Pediatr Res, 47: 495-503. https://doi.org/10.1203/00006450-200004000-00014.
  • Kölker, S., Garbade, S. F., Greenberg, C. R., Leonard, J. V., Saudubray, J. M., …, Hoffmann, G. F (2006). Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res, 59(6):840-7. https://doi.org/10.1203/01.pdr.0000219387.79887.86.
  • Kölker, S., Garbade, S. F., Boy, N., Maier, E. M., Meissner, T., …, Hoffmann, G. F (2007). Decline of acute encephalopathic crises in children with glutaryl‐CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res, 62: 357– 363. https://doi.org/10.1203/PDR.0b013e318137a124.
  • Morton, D. H., Bennett, M. J., Seargeant, L. E., Nichter, C. A., & Kelley, R. I (1996). Glutaric aciduria type 1: A common episodic encephalopathy and spastic paralysis in the Amish of Lancaster Country, Pennsylvania. AM J Med Genet, 59:1006-11.
  • Renner, C., Razeghi, S., Uberall, M. A (1997). Clinically asymptomatic glutaric aciduria type 1 in a 4 5/12 year old girl with bilateral temporal arachnoid cysts. J Inherit Metab Dis, 20: 840-1.
  • Strauss, K. A., Brumbaugh, J., Duffy, A., Wardley, B., Robinson, D., …, Morton, D. H (2011). Safety, efficacy and Physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx. Mol Genet Metab, 104(1–2): 93–106. https://doi.org/10.1016/j.ymgme.2011.07.003.
  • Tsai, F. C., Lee, H. J., Wang, A. G., Hsieh, S. C., Lu, Y. H., Lee, M. C., …, Niu, D. M (2017). Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes. Journal of the Chinese Medical Association, 80(4): 253–261. https://doi.org/10.1016/j.jcma.2016.07.006.

Importance of Nutrition Program in a Case of Glutaric Aciduria Type 1 with Long-Term Follow- up: A Case Report

Yıl 2022, Cilt: 2 Sayı: 2, 283 - 288, 22.08.2022

Öz

Glutaric aciduria type 1 is an autosomal recessive inherited neurometabolic disease. It is characterized by glutaryl CoA dehydrogenase enzyme activity deficiency or enzyme deficiency, which is effective in the catabolism of lysine, tryptophan and hydroxylysine. As a result of the metabolism of non-catabolizable amino acids, toxic metabolites such as glutaric acid, 3-OH glutaric acid, and glutaryl carnitine accumulate in various tissues and in the brain. It can cause various damages by affecting the basal ganglia of the brain. Although its prevalence varies according to regions, it was determined as 1:110,000 in the general population. Early diagnosis of the disease can prevent permanent neurological damage, while reducing mortality and morbidity associated with the disease. In the treatment of the disease, there is a low protein diet and carnitine supplementation. It is stated that regular follow-up of medical nutrition therapy is effective in reducing dystonic movement disorders, risk of encephalopathic crisis and neurological damage. It is vital that the patient is told all the details of the nutrition program that they will use throughout their lives.

Kaynakça

  • Bernstein, L (2015). Nutrition Management of Glutaric Acidemia Type 1. L.E. Bernstein et al. (eds.), Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, Chapter 19. p: 211-220.
  • Boy, N., Garbade, S. F., Heringer, J., Seitz, A., Kölker, S., & Harting, I (2019). Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1. Journal of Inherited Metabolic Disease, 42(1), 117–127. https://doi.org/ 10.1002/jimd.12033.
  • Boy, N., Mühlhausen, C., Maier, E. M., Heringer, J., Assmann, B., Burgard, P., …, Kölker, S (2017). Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis, 40(1):75–101. https://doi.org/10.1007/s10545-016-9999-9.
  • Christensen, E (1993). A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: application in the genotyping of the glutaryl-CoA dehydrogenase locus. Clin Chim Acta, 1993; 220: 71-80.
  • Dwyer, T. M., Rao, K. S., Goodman, S. I., & Frerman, F. E (2000). Proton abstraction reaction, steady‐state kinetics, and oxidation –reduction potential of human glutaryl‐CoA dehydrogenase. Biochemistry, 39: 11488‐ 11499. https://doi.org/10.1021/bi000700g.
  • Funk, C. B., Prasad, A. N., Frosk, P., Sauer, S., Kölker, S., Greenberg, C. R., & Del Bigio, M. R (2005). Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. Brain, 128(Pt 4):711-22. https://doi.org/10.1093/brain/awh401.
  • Govender, R., Mitha, A., & Mubaiwa, L (2017). A review of patients with glutaric aciduria type 1 at Inkosi Albert Luthuli Central Hospital, Durban, South Africa. SAMJ, 107 (3): 201-204. https://doi.org/10.7196/SAMJ.2017.v107i3.11332.
  • Greenberg, G. R., Reimer, D., Singal, R., Triggs-Raine, B., Chudley, A. E., …, Goodman, S. I (1995). A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type 1. Hum Mol Genet, 4: 493-5.
  • Heringer, J., Boy, S. P., Ensenauer, R., Assmann, B., Zschocke, J., …, Kölker, S (2010). Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol, 68:743-752. https://doi.org/10.1002/ana.22095.
  • Hoffmann, G. F., Athanassopoulos, S., Burlina, A. B., Duran, M., de Klerk, J. B., …, Christensen, E (1996). Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics, 1996; 27:115.
  • Kölker, S., Ahlemeyer, B., Krieglstein, J., & Hoffmann, G. F (2000). Maturationdependent neurotoxicity of 3-hydroxyglutaric and glutaric acids in vitro: a new pathophysiologic approach to glutaryl-CoA dehydrogenase deficiency. Pediatr Res, 47: 495-503. https://doi.org/10.1203/00006450-200004000-00014.
  • Kölker, S., Garbade, S. F., Greenberg, C. R., Leonard, J. V., Saudubray, J. M., …, Hoffmann, G. F (2006). Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res, 59(6):840-7. https://doi.org/10.1203/01.pdr.0000219387.79887.86.
  • Kölker, S., Garbade, S. F., Boy, N., Maier, E. M., Meissner, T., …, Hoffmann, G. F (2007). Decline of acute encephalopathic crises in children with glutaryl‐CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res, 62: 357– 363. https://doi.org/10.1203/PDR.0b013e318137a124.
  • Morton, D. H., Bennett, M. J., Seargeant, L. E., Nichter, C. A., & Kelley, R. I (1996). Glutaric aciduria type 1: A common episodic encephalopathy and spastic paralysis in the Amish of Lancaster Country, Pennsylvania. AM J Med Genet, 59:1006-11.
  • Renner, C., Razeghi, S., Uberall, M. A (1997). Clinically asymptomatic glutaric aciduria type 1 in a 4 5/12 year old girl with bilateral temporal arachnoid cysts. J Inherit Metab Dis, 20: 840-1.
  • Strauss, K. A., Brumbaugh, J., Duffy, A., Wardley, B., Robinson, D., …, Morton, D. H (2011). Safety, efficacy and Physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx. Mol Genet Metab, 104(1–2): 93–106. https://doi.org/10.1016/j.ymgme.2011.07.003.
  • Tsai, F. C., Lee, H. J., Wang, A. G., Hsieh, S. C., Lu, Y. H., Lee, M. C., …, Niu, D. M (2017). Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes. Journal of the Chinese Medical Association, 80(4): 253–261. https://doi.org/10.1016/j.jcma.2016.07.006.
Toplam 17 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Sağlık Hizmetleri ve Sistemleri (Diğer)
Bölüm Olgu Sunumu
Yazarlar

Büşra Demirer Bu kişi benim 0000-0003-1945-0485

Hülya Yardımcı Bu kişi benim 0000-0002-2664-4176

Nevra Koç Bu kişi benim 0000-0002-4358-4443

Yayımlanma Tarihi 22 Ağustos 2022
Yayımlandığı Sayı Yıl 2022 Cilt: 2 Sayı: 2

Kaynak Göster

APA Demirer, B., Yardımcı, H., & Koç, N. (2022). Uzun Süre Takipli Glutarik Asidüri Tip 1 Olgusunda Beslenme Programının Önemi: Olgu Sunumu. Unika Sağlık Bilimleri Dergisi, 2(2), 283-288.