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Propiyonik Asidemi ve Beslenme Tedavisi

Year 2019, Volume: 1 Issue: 3, 33 - 37, 16.07.2019

Abstract

Propiyonik asidemi
(PA), dallı zincirli amino asit katabolizmasının metabolitlerinin birikmesi ile
karakterize, otozomal resesif geçişli propiyonat katabolizması bozukluğudur.
Küresel Propiyonik Asidemi  insidansı 1:
100,000'dir ve Japonya'da 1: 17,400, Almanya'da 1: 250,000 arasında
değişmektedir. Akut hastalık metabolik asidoz, bilinç değişiklikleri,
ensefalopati, anoreksiya ve bulantı-kusmaya sebep olurken, kronik
komplikasyonlar arasında zayıf büyüme, hareket bozuklukları, epilepsi bulunur.
PCC eksikliğinde metabolik olarak aktif olan propiyonil-CoA'nın birikmesi,
diğer birçok metabolik yolağı etkiler ve çeşitli organik asitlerin yüksek
üriner konsantrasyonlarına yol açar. Karnitin, propiyonik asidemi tarafından
indüklenen DNA hasarını azaltır. Karaciğer transplantasyonu metabolik defektin
sadece kısmi düzeltilmesini sağlar. Beslenme tedavisinin amacı propionat üretimini
azaltmaktır. Bunun için düşük proteinli bir diyet kullanarak prekürsör amino
asitlerin kısıtlanması uzun süreli açlıktan kaçınılması gerekmektedir.
Hastalığın iyileşme sürecinde beslenme tedavisi önem taşımaktadır. Bu nedenle
mutlaka bir beslenme uzmanından yardım alınması gerekmektedir. 

References

  • 1. Baumgartner MR, et al. Proposed Guidelines For The Diagnosis And Management Of Methylmalonic And Propionic Acidemia. Orphanet Journal of Rare Diseases 2014;130
  • 2. Perez B, et al. Propionic Acidemia: İdentification of Twenty-Four Novel Mutations in Europe and North America. Molecular Genetics and Metabolism 2003; 59–67
  • 3. Richard E, et al. Understanding Molecular Mechanisms in Propionic Acidemia and Investigated Therapeutic Strategies. Expert Opinion on Orphan Drugs 2015; 12
  • 4. Darvish-Damavandi M, Ho KH and Kang TS. Towards the Development of an Enzyme Replacement Therapy for the Metabolic Disorder Propionic Acidemia. Molecular Genetics and Metabolism 2016; 51–60
  • 5.Rafique M. Propionic Acidaemia: Demographic Characteristics and Complications.  J Pediatr Endocr Met 2013;497–501
  • 6. Fraser JL and Venditti CP. Methylmalonic and Propionic Acidemias: Clinical Management Update. Curr Opin Pediatr 2016; 682–693
  • 7. Al-Lahham SH, et al. Biological Effects of Propionic Acid in Humans; Metabolism, Potential Applications and Underlying Mechanisms. Biochimica et Biophysica Acta 2010; 1175–1183
  • 8. Scholl-Bürgi S, et al. Amino Acid Metabolism in Patients with Propionic Acidaemia. J Inherit Metab Dis 2012; 65–70
  • 9. Schreiber J, et al. Neurologic Considerations in Propionic Acidemia. Molecular Genetics and Metabolism 2012; 10–15
  • 10. Pena L, et al. Natural History of Propionic Acidemia. Molecular Genetics and Metabolism 2012; 5–9
  • 11. Tummolo A, et al. Long-Term Continuous N-Carbamylglutamate Treatment in Frequently Decompensated Propionic Acidemia: A Case Report. Journal of Medical Case Reports 2018; 103
  • 12. Häberle J, et al. Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories. Journal of Rare Diseases 2018; 219
  • 13. Romano S, et al. Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation. J Pediatr 2010; 128
  • 14. Ribas GS, et al. L-Carnitine Supplementation as a Potential Antioxidant Therapy for Inherited Neurometabolic Disorders. Gene 2014; 469–476
  • 15. Ribas GS, et al. Prevention by L-Carnitine of DNA Damage Induced by Propionic and L-Methylmalonic Acids in Human Peripheral Leukocytes In Vitro. Mutation Research 2010; 123–128
  • 16. Silva HM and Sokal E. Liver Transplantation for Propionic Academia: Case Report. Journal of Pediatric Gastroenterology and Nutrition 2017; 73-76
  • 17. Vara R, et al. Liver Transplantation for Propionic Acidemia in Children. Liver Transplantatıon 2011; 661-667
  • 18. Baulny HO. Branched-chain Organic Acidurias /Acidaemias. Hélène Ogier de Baulny, Carlo Dionisi-Vici and Udo Wendel 5.th.ed, Germany, Ein Unternehmen von Springer Science+Business Media. 2012; 83
  • 19. Dixon M. Organic Acidaemias and Urea Cycle Disorders. Marjorie Dixon 4.th.ed, UK, John Wiley & Sons Ltd. 2015; 381
  • 20. Calcar S. Nutrition Management of Propionic Acidemia and Methylmalonic Acidemia. Switzerland, Sandy van Calcar Springer International Pub. 2015; 229

Propionic Acidemia And Diet Therapy

Year 2019, Volume: 1 Issue: 3, 33 - 37, 16.07.2019

Abstract

Propionic acidemia (PA) is an autosomal recessive propionate catabolism disorder characterized by the accumulation
of metabolites of branched-chain amino acid catabolism. Acute disease causes metabolic acidosis, changes in
consciousness, encephalopathy, anorexia and nausea-vomiting, while chronic complications include poor growth,
movement disorders, and epilepsy. The accumulation of propionyl-CoA, which is metabolically active in PCC
deficiency, affects many other metabolic pathways, increasing the concentrations of organic acids in the urea.
Carnitine supplementation, liver transplantation and low-protein diet therapy are some of the important methods in the
treatment of the disease. Carnitine reduces DNA damage induced by propionic acidemia. Liver transplantation
provides only partial correction of metabolic defect. The aim of nutritional therapy is to reduce the production of
propionate. For this reason, prolonged starvation should be avoided by limiting precursor amino acids using a low
protein diet. It is important that patients practice their diet without disrupting their diet.

References

  • 1. Baumgartner MR, et al. Proposed Guidelines For The Diagnosis And Management Of Methylmalonic And Propionic Acidemia. Orphanet Journal of Rare Diseases 2014;130
  • 2. Perez B, et al. Propionic Acidemia: İdentification of Twenty-Four Novel Mutations in Europe and North America. Molecular Genetics and Metabolism 2003; 59–67
  • 3. Richard E, et al. Understanding Molecular Mechanisms in Propionic Acidemia and Investigated Therapeutic Strategies. Expert Opinion on Orphan Drugs 2015; 12
  • 4. Darvish-Damavandi M, Ho KH and Kang TS. Towards the Development of an Enzyme Replacement Therapy for the Metabolic Disorder Propionic Acidemia. Molecular Genetics and Metabolism 2016; 51–60
  • 5.Rafique M. Propionic Acidaemia: Demographic Characteristics and Complications.  J Pediatr Endocr Met 2013;497–501
  • 6. Fraser JL and Venditti CP. Methylmalonic and Propionic Acidemias: Clinical Management Update. Curr Opin Pediatr 2016; 682–693
  • 7. Al-Lahham SH, et al. Biological Effects of Propionic Acid in Humans; Metabolism, Potential Applications and Underlying Mechanisms. Biochimica et Biophysica Acta 2010; 1175–1183
  • 8. Scholl-Bürgi S, et al. Amino Acid Metabolism in Patients with Propionic Acidaemia. J Inherit Metab Dis 2012; 65–70
  • 9. Schreiber J, et al. Neurologic Considerations in Propionic Acidemia. Molecular Genetics and Metabolism 2012; 10–15
  • 10. Pena L, et al. Natural History of Propionic Acidemia. Molecular Genetics and Metabolism 2012; 5–9
  • 11. Tummolo A, et al. Long-Term Continuous N-Carbamylglutamate Treatment in Frequently Decompensated Propionic Acidemia: A Case Report. Journal of Medical Case Reports 2018; 103
  • 12. Häberle J, et al. Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories. Journal of Rare Diseases 2018; 219
  • 13. Romano S, et al. Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation. J Pediatr 2010; 128
  • 14. Ribas GS, et al. L-Carnitine Supplementation as a Potential Antioxidant Therapy for Inherited Neurometabolic Disorders. Gene 2014; 469–476
  • 15. Ribas GS, et al. Prevention by L-Carnitine of DNA Damage Induced by Propionic and L-Methylmalonic Acids in Human Peripheral Leukocytes In Vitro. Mutation Research 2010; 123–128
  • 16. Silva HM and Sokal E. Liver Transplantation for Propionic Academia: Case Report. Journal of Pediatric Gastroenterology and Nutrition 2017; 73-76
  • 17. Vara R, et al. Liver Transplantation for Propionic Acidemia in Children. Liver Transplantatıon 2011; 661-667
  • 18. Baulny HO. Branched-chain Organic Acidurias /Acidaemias. Hélène Ogier de Baulny, Carlo Dionisi-Vici and Udo Wendel 5.th.ed, Germany, Ein Unternehmen von Springer Science+Business Media. 2012; 83
  • 19. Dixon M. Organic Acidaemias and Urea Cycle Disorders. Marjorie Dixon 4.th.ed, UK, John Wiley & Sons Ltd. 2015; 381
  • 20. Calcar S. Nutrition Management of Propionic Acidemia and Methylmalonic Acidemia. Switzerland, Sandy van Calcar Springer International Pub. 2015; 229
There are 20 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Derleme
Authors

Cahit Erkul 0000-0003-0940-1129

Hande Öngün Yılmaz This is me 0000-0002-3497-567X

Publication Date July 16, 2019
Published in Issue Year 2019 Volume: 1 Issue: 3

Cite

APA Erkul, C., & Öngün Yılmaz, H. (2019). Propiyonik Asidemi ve Beslenme Tedavisi. Türkiye Sağlık Bilimleri Ve Araştırmaları Dergisi, 1(3), 33-37.
AMA Erkul C, Öngün Yılmaz H. Propiyonik Asidemi ve Beslenme Tedavisi. Türkiye Sağlık Bilimleri ve Araştırmaları Dergisi. July 2019;1(3):33-37.
Chicago Erkul, Cahit, and Hande Öngün Yılmaz. “Propiyonik Asidemi Ve Beslenme Tedavisi”. Türkiye Sağlık Bilimleri Ve Araştırmaları Dergisi 1, no. 3 (July 2019): 33-37.
EndNote Erkul C, Öngün Yılmaz H (July 1, 2019) Propiyonik Asidemi ve Beslenme Tedavisi. Türkiye Sağlık Bilimleri ve Araştırmaları Dergisi 1 3 33–37.
IEEE C. Erkul and H. Öngün Yılmaz, “Propiyonik Asidemi ve Beslenme Tedavisi”, Türkiye Sağlık Bilimleri ve Araştırmaları Dergisi, vol. 1, no. 3, pp. 33–37, 2019.
ISNAD Erkul, Cahit - Öngün Yılmaz, Hande. “Propiyonik Asidemi Ve Beslenme Tedavisi”. Türkiye Sağlık Bilimleri ve Araştırmaları Dergisi 1/3 (July 2019), 33-37.
JAMA Erkul C, Öngün Yılmaz H. Propiyonik Asidemi ve Beslenme Tedavisi. Türkiye Sağlık Bilimleri ve Araştırmaları Dergisi. 2019;1:33–37.
MLA Erkul, Cahit and Hande Öngün Yılmaz. “Propiyonik Asidemi Ve Beslenme Tedavisi”. Türkiye Sağlık Bilimleri Ve Araştırmaları Dergisi, vol. 1, no. 3, 2019, pp. 33-37.
Vancouver Erkul C, Öngün Yılmaz H. Propiyonik Asidemi ve Beslenme Tedavisi. Türkiye Sağlık Bilimleri ve Araştırmaları Dergisi. 2019;1(3):33-7.