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Akçaağaç Şurubu İdrar Hastalığı Ve Tıbbi Beslenme Tedavisi

Year 2021, , 41 - 48, 26.04.2021

Mücahit Muslu , Cansu Kök

https://doi.org/10.51754/cusbed.781861

Abstract

Akçaağaç şurubu idrar hastalığı, dallı zincirli a-ketoasit dehidrojenaz enzim kompleksinin olmaması veya yeterli üretilememesi sonucu dallı zincirli aminoasitler ve metabolitlerinin birikmesiyle ortaya çıkan otozomal resesif geçişli nadir görülen bir hastalıktır. Hastalığın farklı fenotip özellik gösteren türleri bulunmaktadır. Hafif belirtilerden koma ve ölüme kadar gidebilen geniş bir aralıkta bulgular gösterebilmektedir. Hastalığın tedavisinde lösin, izolösin ve valinden kısıtlı ömür boyu süren diyet uygulanmaktadır. Diyet tedavisinde amaç büyüme ve gelişmeyi sağlarken özellikle lösin yükselmesiyle oluşabilecek nörotoksik etkiyi engellemektir. Hastanın ihtiyaçlarına uygun olacak şekilde enerji ve makro besin öğeleri hesaplanarak aynı zamanda kanda toksik etki göstermeyecek kadar da lösin, izolösin ve valin içeren diyet planlanmaktadır. Yüksek protein içeren birçok besinde lösin, izolösin ve valin bulunduğundan dolayı özel hazırlanmış lösin, izolösin ve valin içermeyen formulalar, düşük lösin içerikli besinler, yağlar, şeker ve nişasta beslenme tedavisinde kullanılmaktadır. Hastaların farklı yaşlarda, gebelik gibi özel durumlarda veya katabolik süreçlerde ihtiyaçları değişebilmektedir. Bu çalışmada akçaağaç şurubu idrar hastalığı hastaları için uygulanan tıbbi beslenme tedavisi önerileri incelenmiştir.

Keywords

Akçaağaç şurubu idrar hastalığı Beslenme Dallı zincirli aminoasitler

References

  • Blackburn PR, Gass JM, Vairo FP, et al. (2017). Maple syrup urine disease: mechanisms and management. The application of clinical genetics, 10:57. doi: 10.2147/TACG.S125962
  • Kenneson A, Osara Y, Pringle T, et al. (2018). Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry. Mol Genet Metab Rep, 15:22. doi: 10.1016/j.ymgmr.2018.01.001
  • Çoşkun T. (2018). Yurdakök Pediatri Kısım:9 Kalıtsal Metabolizma Hastalıkları. Yurdakök M (edt). Ankara: Güneş Tıp Kitapevleri. 64-8 p.
  • Lynch CJ, Adams SH. (2014). Branched-chain amino acids in metabolic signalling and insulin resistance. Nat Rev Endocrinol, 10(12):723. doi: 10.1038/nrendo.2014.171
  • Burrage LC, Nagamani SC, Campeau PM, et al. (2014). Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. Hum Mol Genet, 23(R1):R1-R8. doi: 10.1093/hmg/ddu123
  • Chuang JL, Wynn RM, Moss CC, et al. (2004). Structural and Biochemical Basis for Novel Mutations in Homozygous Israeli Maple Syrup Urine Disease Patients A Proposed Mechanısm For The Thıamın-Responsıve Phenotype. J Biol Chem, 279(17):17792-17800.
  • Mütze, U. (2017). Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter (Eds.). Inborn metabolic diseases: diagnosis and treatment. Springer. doi: 10.1007/s10545-016-0008-0
  • Hoffmann GF, Nyhan WL, Zschocke J, et al. (2002). Inherited metabolic diseases: Springer.
  • Ferrier DR. (2019). Lippincott Görsel Anlatımlı Çalışma Kitapları: Biyokimya. Ulukaya E. (edt). İstanbul: Nobel Tıp Kitapevleri. 272-3 p.
  • Carecchio M, Schneider SA, Chan, H, et al. (2011). Movement disorders in adult surviving patients with maple syrup urine disease. Movement disorders, 26(7):1324-1328. doi: 10.1002/mds.23629
  • Klee D, Thimm E, Wittsack HJ, et al. (2013). Structural white matter changes in adolescents and young adults with maple syrup urine disease. J Inherit Metab Dis, 36(6):945-953. doi: 10.1007/s10545-012-9582-y
  • Uaariyapanichkul J, Saengpanit P, Damrongphol P, et al. (2017). Skin Lesions Associated with Nutritional Management of Maple Syrup Urine Disease. Case Reports in Dermatological Medicine. doi: 10.1155/2017/3905658
  • Kumru B, and Hismi BO. (2019). Investigation of L-Carnitine Concentrations in Treated Patients with Maple Syrup Urine Disease. J Pediatr Genet, 8(03):133-136. doi: 10.1055/s-0039-1691789
  • Herber S, Schwartz IVD, Nalin T, et al. (2015). Maple syrup urine disease in Brazil: a panorama of the last two decades. Jornal de pediatria, 91(3):292-298. doi: 10.1016/j.jped.2014.08.010
  • Özel HG. (2014). Yenidoğanda Kalıtsal Metabolik Hastalıklar. Çoşkun T, Yurdakök M, (edt). Ankara: Güneş Tıp Kitapevleri; 348-50 p.
  • Chuang DT, Shih VE, Wynn RM. (2001). Maple syrup urine disease (branched-chain ketoaciduria). The metabolic and molecular bases of inherited disease.1971-2005. doi: 10.1036/Ommbid.400
  • Chuang DT, Wynn, RM, Cox RP, et al. (2015). Maple Syrup Urine Disease: Clinical and Therapeutic Considerations. In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease (pp. 663-672). Academic Press. doi: 10.1016/B978-0-12-410529-4.00059-0
  • Harris-Haman P, Brown L, Massey S, et al. (2017). Implications of maple syrup urine disease in newborns. Nursing for Women's Health, 21(3):196-206. doi: 10.1016/j.nwh.2017.04.009
  • Strauss KA, Wardley B, Robinson D, et al. (2010). Classical maple syrup urine disease and brain development: principles of management and formula design. Mol Genet Metab, 99(4):333-345. doi: 10.1016/j.ymgme.2009.12.007
  • Campo K, Castro G, Hamilton V, et al. (2015) Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD). In: Morava E., Baumgartner M., Patterson M., Rahman S., Zschocke J., Peters V. (eds) JIMD Reports, Volume 26. JIMD Reports, vol 26. Springer, Berlin, Heidelberg. doi: 10.1007/8904_2015_500
  • Díaz VM, Camarena C, de la Vega Á, et al. (2014). Liver transplantation for classical maple syrup urine disease: long-term follow-up. J Pediatr Gastr Nutr, 59(5):636-639. doi: 10.1097/MPG.0000000000000469
  • Brunetti-Pierri N, Lanpher B, Erez A, et al. (2010). Phenylbutyrate therapy for maple syrup urine disease. Hum Mol Genet, 20(4):631-40. doi: 10.1093/hmg/ddq507
  • Frazier DM, Allgeier C, Homer C, et al. (2014). Nutrition management guideline for maple syrup urine disease: an evidence-and consensus-based approach. Mol Genet Metab, 112(3):210-217. doi: 10.1016/j.ymgme.2014.05.006
  • Bernstein LE, Rohr F, Helm JR. (2015). Nutrition Management of Inherited Metabolic Diseases. Cham: Springer International Publishing.
  • King K. (2013). Essentials of pediatric nutrition: Jones & Bartlett Publishers.
  • Boyer SW, Barclay LJ, Burrage LC. (2015). Inherited metabolic disorders: Aspects of chronic nutrition management. Nutr Clin Pract, 30(4):502-510. doi: 10.1177/0884533615586201
  • Ho G, Ueda K, Houben RF, et al. (2016). Metabolic diet app suite for inborn errors of amino acid metabolism. Mol Genet Metab, 117(3):322-327. doi: 10.1016/j.ymgme.2015.12.007
  • Scott AI, Cusmano-Ozog K, Enns GM, et al. (2017). Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy. Mol Genet Metab, 122(4)156-159. doi: 10.1016/j.ymgme.2017.09.012
  • Servais A, Arnoux JB, Lamy C, et al. (2013). Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino‐acid mixture. J Inherit Metab Dis, 36(6)939-944. doi: 10.1007/s10545-012-9570-2
  • Blau N, Duran M, Gibson KM, et al. (2014). Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases: Springer.
  • Taybert J. (2015). Procreation in families with inborn error of metabolism new challenges for medical care. Dev Period Med, 19(4):519-522.
  • Wessel AE, Mogensen KM, Rohr F, et al. (2015). Management of a woman with maple syrup urine disease during pregnancy, delivery, and lactation. Jpen-Parenter Enter, 39(7):875-879.
  • Koletzko B, Godfrey KM, Poston L, et al. (2019). Nutrition during pregnancy, lactation and early childhood and its implications for maternal and long-term child health: The early nutrition project recommendations. Ann Nutr Metab, 74(2):93-106. doi: 10.1159/000496471
  • Brown J, Tchan M, Nayyar R. (2018). Maple syrup urine disease: tailoring a plan for pregnancy. J Matern-Fetal Neonatal Med, 31(12):1663-1666.
  • Grünert SC, Rosenbaum-Fabian S, Schumann A, et al. (2018). Successful pregnancy in maple syrup urine disease: a case report and review of the literature. Nutr J, 17(1):51. 10.1186/s12937-018-0357-7
  • Shaw V. and Lawson M. (2013). Clinical Paediatric Dietetics: John Wiley & Sons.
  • Rodan LH, Aldubayan SH, Berry G. et al. (2018). Acute illness protocol for maple syrup urine disease. Pediatr Emerg Care, 34(1):64-67. doi: 10.1097/PEC.0000000000001299

Maple Syrup Urine Disease and Medical Nutrition Therapy

Year 2021, , 41 - 48, 26.04.2021

Mücahit Muslu , Cansu Kök

https://doi.org/10.51754/cusbed.781861

Abstract

Maple syrup urine disease is a rare autosomal recessive disease caused by the absence or inadequacy of the branched-chain a-ketoacid dehydrogenase enzyme complex, which results in the accumulation of branched-chain amino acids and its metabolites. There are different phenotypic features of the disease. It can show a wide range of symptoms ranging from mild symptoms to coma and death. In the treatment of the disease, a lifelong dietary restriction of leucine, isoleucine, and valine is applied. The aim of diet therapy is to prevent the neurotoxic effect that may occur due to leucine elevation while providing growth and development. Energy and macro nutrients are calculated according to the needs of the patient. At the same time, a diet containing leucine, isoleucine, and valine in a quantity that is not toxic to the blood is planned. Due to the presence of leucine, isoleucine, and valine in many foods containing high protein, specially prepared leucine, isoleucine, and valine free formulas, foods with low leucine content, fats, sugar and starch are used in the diet therapy. The needs of patients at different ages, in special cases such as pregnancy or in catabolic processes may change. In this study, medical nutrition therapy recommendations for maple syrup urine disease patients were examined.

Keywords

Maple syrup urine disease Nutrition Branched-chain aminoacids

References

  • Blackburn PR, Gass JM, Vairo FP, et al. (2017). Maple syrup urine disease: mechanisms and management. The application of clinical genetics, 10:57. doi: 10.2147/TACG.S125962
  • Kenneson A, Osara Y, Pringle T, et al. (2018). Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry. Mol Genet Metab Rep, 15:22. doi: 10.1016/j.ymgmr.2018.01.001
  • Çoşkun T. (2018). Yurdakök Pediatri Kısım:9 Kalıtsal Metabolizma Hastalıkları. Yurdakök M (edt). Ankara: Güneş Tıp Kitapevleri. 64-8 p.
  • Lynch CJ, Adams SH. (2014). Branched-chain amino acids in metabolic signalling and insulin resistance. Nat Rev Endocrinol, 10(12):723. doi: 10.1038/nrendo.2014.171
  • Burrage LC, Nagamani SC, Campeau PM, et al. (2014). Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. Hum Mol Genet, 23(R1):R1-R8. doi: 10.1093/hmg/ddu123
  • Chuang JL, Wynn RM, Moss CC, et al. (2004). Structural and Biochemical Basis for Novel Mutations in Homozygous Israeli Maple Syrup Urine Disease Patients A Proposed Mechanısm For The Thıamın-Responsıve Phenotype. J Biol Chem, 279(17):17792-17800.
  • Mütze, U. (2017). Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter (Eds.). Inborn metabolic diseases: diagnosis and treatment. Springer. doi: 10.1007/s10545-016-0008-0
  • Hoffmann GF, Nyhan WL, Zschocke J, et al. (2002). Inherited metabolic diseases: Springer.
  • Ferrier DR. (2019). Lippincott Görsel Anlatımlı Çalışma Kitapları: Biyokimya. Ulukaya E. (edt). İstanbul: Nobel Tıp Kitapevleri. 272-3 p.
  • Carecchio M, Schneider SA, Chan, H, et al. (2011). Movement disorders in adult surviving patients with maple syrup urine disease. Movement disorders, 26(7):1324-1328. doi: 10.1002/mds.23629
  • Klee D, Thimm E, Wittsack HJ, et al. (2013). Structural white matter changes in adolescents and young adults with maple syrup urine disease. J Inherit Metab Dis, 36(6):945-953. doi: 10.1007/s10545-012-9582-y
  • Uaariyapanichkul J, Saengpanit P, Damrongphol P, et al. (2017). Skin Lesions Associated with Nutritional Management of Maple Syrup Urine Disease. Case Reports in Dermatological Medicine. doi: 10.1155/2017/3905658
  • Kumru B, and Hismi BO. (2019). Investigation of L-Carnitine Concentrations in Treated Patients with Maple Syrup Urine Disease. J Pediatr Genet, 8(03):133-136. doi: 10.1055/s-0039-1691789
  • Herber S, Schwartz IVD, Nalin T, et al. (2015). Maple syrup urine disease in Brazil: a panorama of the last two decades. Jornal de pediatria, 91(3):292-298. doi: 10.1016/j.jped.2014.08.010
  • Özel HG. (2014). Yenidoğanda Kalıtsal Metabolik Hastalıklar. Çoşkun T, Yurdakök M, (edt). Ankara: Güneş Tıp Kitapevleri; 348-50 p.
  • Chuang DT, Shih VE, Wynn RM. (2001). Maple syrup urine disease (branched-chain ketoaciduria). The metabolic and molecular bases of inherited disease.1971-2005. doi: 10.1036/Ommbid.400
  • Chuang DT, Wynn, RM, Cox RP, et al. (2015). Maple Syrup Urine Disease: Clinical and Therapeutic Considerations. In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease (pp. 663-672). Academic Press. doi: 10.1016/B978-0-12-410529-4.00059-0
  • Harris-Haman P, Brown L, Massey S, et al. (2017). Implications of maple syrup urine disease in newborns. Nursing for Women's Health, 21(3):196-206. doi: 10.1016/j.nwh.2017.04.009
  • Strauss KA, Wardley B, Robinson D, et al. (2010). Classical maple syrup urine disease and brain development: principles of management and formula design. Mol Genet Metab, 99(4):333-345. doi: 10.1016/j.ymgme.2009.12.007
  • Campo K, Castro G, Hamilton V, et al. (2015) Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD). In: Morava E., Baumgartner M., Patterson M., Rahman S., Zschocke J., Peters V. (eds) JIMD Reports, Volume 26. JIMD Reports, vol 26. Springer, Berlin, Heidelberg. doi: 10.1007/8904_2015_500
  • Díaz VM, Camarena C, de la Vega Á, et al. (2014). Liver transplantation for classical maple syrup urine disease: long-term follow-up. J Pediatr Gastr Nutr, 59(5):636-639. doi: 10.1097/MPG.0000000000000469
  • Brunetti-Pierri N, Lanpher B, Erez A, et al. (2010). Phenylbutyrate therapy for maple syrup urine disease. Hum Mol Genet, 20(4):631-40. doi: 10.1093/hmg/ddq507
  • Frazier DM, Allgeier C, Homer C, et al. (2014). Nutrition management guideline for maple syrup urine disease: an evidence-and consensus-based approach. Mol Genet Metab, 112(3):210-217. doi: 10.1016/j.ymgme.2014.05.006
  • Bernstein LE, Rohr F, Helm JR. (2015). Nutrition Management of Inherited Metabolic Diseases. Cham: Springer International Publishing.
  • King K. (2013). Essentials of pediatric nutrition: Jones & Bartlett Publishers.
  • Boyer SW, Barclay LJ, Burrage LC. (2015). Inherited metabolic disorders: Aspects of chronic nutrition management. Nutr Clin Pract, 30(4):502-510. doi: 10.1177/0884533615586201
  • Ho G, Ueda K, Houben RF, et al. (2016). Metabolic diet app suite for inborn errors of amino acid metabolism. Mol Genet Metab, 117(3):322-327. doi: 10.1016/j.ymgme.2015.12.007
  • Scott AI, Cusmano-Ozog K, Enns GM, et al. (2017). Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy. Mol Genet Metab, 122(4)156-159. doi: 10.1016/j.ymgme.2017.09.012
  • Servais A, Arnoux JB, Lamy C, et al. (2013). Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino‐acid mixture. J Inherit Metab Dis, 36(6)939-944. doi: 10.1007/s10545-012-9570-2
  • Blau N, Duran M, Gibson KM, et al. (2014). Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases: Springer.
  • Taybert J. (2015). Procreation in families with inborn error of metabolism new challenges for medical care. Dev Period Med, 19(4):519-522.
  • Wessel AE, Mogensen KM, Rohr F, et al. (2015). Management of a woman with maple syrup urine disease during pregnancy, delivery, and lactation. Jpen-Parenter Enter, 39(7):875-879.
  • Koletzko B, Godfrey KM, Poston L, et al. (2019). Nutrition during pregnancy, lactation and early childhood and its implications for maternal and long-term child health: The early nutrition project recommendations. Ann Nutr Metab, 74(2):93-106. doi: 10.1159/000496471
  • Brown J, Tchan M, Nayyar R. (2018). Maple syrup urine disease: tailoring a plan for pregnancy. J Matern-Fetal Neonatal Med, 31(12):1663-1666.
  • Grünert SC, Rosenbaum-Fabian S, Schumann A, et al. (2018). Successful pregnancy in maple syrup urine disease: a case report and review of the literature. Nutr J, 17(1):51. 10.1186/s12937-018-0357-7
  • Shaw V. and Lawson M. (2013). Clinical Paediatric Dietetics: John Wiley & Sons.
  • Rodan LH, Aldubayan SH, Berry G. et al. (2018). Acute illness protocol for maple syrup urine disease. Pediatr Emerg Care, 34(1):64-67. doi: 10.1097/PEC.0000000000001299
There are 37 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Review
Authors

Mücahit Muslu 0000-0002-8761-5061

Cansu Kök 0000-0002-4754-1635

Publication Date April 26, 2021
Published in Issue Year 2021

Cite

APA Muslu, M., & Kök, C. (2021). Akçaağaç Şurubu İdrar Hastalığı Ve Tıbbi Beslenme Tedavisi. Instıtute of Health Sciences Journal, 6(1), 41-48. https://doi.org/10.51754/cusbed.781861

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