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Akçaağaç Şurubu Hastalığının Beslenme Tedavisinde Güncel Yaklaşımlar

Yıl 2021, Sayı: 25, 145 - 151, 31.08.2021
https://doi.org/10.31590/ejosat.866160

Öz

Akçaağaç Şurubu İdrar Hastalığı (MSUD) lösin, izolösin ve valin metabolizmasındaki bozukluk sonucu oluşan, idrarda akçaağaç şurubu kokusu ile karakterize otozomal resesif geçişli bir hastalıktır. Bu hastalığın Türkiye’de görülme sıklığı 1/200.000’dir. MSUD hastaları tarafından sunulan başlıca klinik özellikler arasında ketoasidoz, gelişememe, yetersiz beslenme, apne, ataksi, nöbetler, koma, psikomotor gecikme, hiperaktivite ve zihinsel gerilik görülmektedir. Akçaağaç şurubu idrar hastalığının klasik, aralıklı, orta düzey, tiamine duyarlı, E3 eksikliğine bağlı olmak üzere beş tipi bulunmaktadır. Yaygın olarak yenidoğanlarda görülen klasik MSUD, yetersiz beslenmeden kaynaklı olarak komayla ve tedavi edilmezse ölümle sonuçlanabilir. Semptomların görülmeye başlaması, beslenmelerindeki protein miktarına bağlı olarak değişebilir. Semptomların başlamasından sonraki birkaç gün içinde tedavi edilen hastaların çoğu hayatta kalır ve herhangi bir nörolojik hasar geliştirmeyebilir. Akut kriz ataklarının düzeltilmesinden sonra Dallı Zincirli Amino Asitler’i (BCAA’ları) kısıtlamaya yönelik uzun süreli beslenme tedavisine geçilir ve bu tedavinin yaşam boyu sürdürülmesi gerekmektedir. Son yıllarda yapılan araştırmalar, beslenme tedavisine erken başlanılması halinde oluşabilecek beyin hasarlarının en aza indirgendiği gösterilmiştir. Bu derlemede akçaağaç şurubu idrar hastalığı bulunan bireylerde beslenme tedavisinin öneminin vurgulanması amaçlanmıştır.

Kaynakça

  • Abi-Wardé, M. T., Roda, C., Arnoux, J. B., Servais, A., Habarou, F., Brassier, A., Pontoizeau, C., Barbier, V., Bayart, M., Leboeuf, V., Chadefaux-Vekemans, B., Dubois, S., Assoun, M., Belloche, C., Alili, J. M., Husson, M. C., Lesage, F., Dupic, L., Theuil, B., Ottolenghi, C., … de Lonlay, P. (2017). Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease. Journal of inherited metabolic disease, 40(6), 783–792. https://doi.org/10.1007/s10545-017-0083-x
  • Aktuğlu Zeybek Ç. (2004). Doğumsal Metabolik Hastalıklarda Beslenme. Sağlıkta ve Hastalıkta Beslenme Sempozyum Dizisi No: 41 – Kasım 2004; s.217-232.
  • Altuntaş, V, Gök, M. (2020). Protein – Protein Etkileşimi Tespit Yöntemleri, Veri Tabanları ve Veri Güvenilirliği. Avrupa Bilim ve Teknoloji Dergisi, (19), 722-733 . DOI: 10.31590/ejosat.724390
  • Aygün, F., Kıykım, E., Aktuğlu-Zeybek, Ç., Zubarioğlu, T., & Cam, H. (2019). Treatment of maple syrup urine disease with high flow hemodialysis in a neonate. The Turkish journal of pediatrics, 61(1), 107–110. https://doi.org/10.24953/turkjped.2019.01.017
  • Blackburn, P. R., Gass, J. M., Vairo, F., Farnham, K. M., Atwal, H. K., Macklin, S., Klee, E. W., & Atwal, P. S. (2017). Maple syrup urine disease: mechanisms and management. The application of clinical genetics, 10, 57–66. https://doi.org/10.2147/TACG.S125962
  • Carecchio, M., Schneider, S. A., Chan, H., Lachmann, R., Lee, P. J., Murphy, E., & Bhatia, K. P. (2011). Movement disorders in adult surviving patients with maple syrup urine disease. Movement disorders : official journal of the Movement Disorder Society, 26(7), 1324–1328. https://doi.org/10.1002/mds.23629
  • Calcar S.V (2015). Nutrition Management of Maple Syrup Urine Disease. Nutrition Management of Inherited Metabolic Diseases, 173–183. doi:10.1007/978-3-319-14621-8_16
  • Chapman KA. (2014) Systemic organic acidemias: Identification, diagnosis, management and long term complications. J Pediatr Biochem. 2014;4(4):193–200.
  • DEMİR M. K,CANDA E,KAĞNICI M,ATİK Y. A,KALKAN S. U,HABİF S,ONAY H,ÇOKER M (2016). Dallı Zincirli Aminoasidopati Sonucu Gelişen Organik Asidemiler: Ege Tıp Deneyimi. The Journal of Pediatric Research, 3(2), 76 - 81.
  • Díaz, V. M., Camarena, C., de la Vega, Á., Martínez-Pardo, M., Díaz, C., López, M., Hernández, F., Andrés, A., & Jara, P. (2014). Liver transplantation for classical maple syrup urine disease: long-term follow-up. Journal of pediatric gastroenterology and nutrition, 59(5), 636–639. https://doi.org/10.1097/MPG.0000000000000469
  • Fabre, A., Baumstarck, K., Cano, A., Loundou, A., Berbis, J., Chabrol, B., & Auquier, P. (2013). Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study. Health and quality of life outcomes, 11, 158. https://doi.org/10.1186/1477-7525-11-158
  • Frazier, D. M., Allgeier, C., Homer, C., Marriage, B. J., Ogata, B., Rohr, F., Splett, P. L., Stembridge, A., & Singh, R. H. (2014). Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Molecular genetics and metabolism, 112(3), 210–217. https://doi.org/10.1016/j.ymgme.2014.05.006
  • Goedde, H. W., Langenbeck, U., Brackertz, D., Keller, W., Rokkones, T., Halvorsen, S., Kiil, R., & Merton, B. (1970). Clinical and biochemical-genetic aspects of intermittent branched-chain ketoaciduria. Report of two Scandinavian families. Acta paediatrica Scandinavica, 59(1), 83–87. https://doi.org/10.1111/j.1651-2227.1970.tb15519.x
  • Herden, U., Grabhorn, E., Santer, R., Li, J., Nadalin, S., Rogiers, X., Scherer, M. N., Braun, F., Beime, J., Lenhartz, H., Muntau, A. C., & Fischer, L. (2019). Surgical Aspects of Liver Transplantation and Domino Liver Transplantation in Maple Syrup Urine Disease: Analysis of 15 Donor-Recipient Pairs. Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 25(6), 889–900. https://doi.org/10.1002/lt.25423
  • Hoffmann, B., Helbling, C., Schadewaldt, P., & Wendel, U. (2006). Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD. Pediatric research, 59(1), 17–20. https://doi.org/10.1203/01.pdr.0000190571.60385.34
  • Kale, Y , Karaoğlu, E . (2017). Kraniyal görüntüleme bulguları ile akçaağaç şurubu idrar hastalığı . Ege Tıp Dergisi , 56 (2) , 99-101 . DOI: 10.19161/etd.344253
  • Kara A. (2012) Pediatrik Metabolizma Hastalıkları ve Beslenme Polikliniğinde Tanı Alan veya Takibe Giren Kalıtsal Metabolik Hastalığı Olan Hastaların Tanılarının, Klinik ve Laboratuar Bulgularıının Analizi ile Takip Sonuçlarının Değerlendirilmesi Uzmanlık Tezi- Adana.
  • Karahan, M. A., Sert, H., Havlioğlu, İ., & Yüce, H. H. (2014). The Anaesthetic Management of a Patient with Maple Syrup Urine Disease. Turkish journal of anaesthesiology and reanimation, 42(6), 355–357. https://doi.org/10.5152/TJAR.2014.07830
  • Kathait, A. S., Puac, P., & Castillo, M. (2018). Imaging Findings in Maple Syrup Urine Disease: A Case Report. Journal of pediatric neurosciences, 13(1), 103–105. https://doi.org/10.4103/JPN.JPN_38_17
  • Khanna, A., Hart, M., Nyhan, W. L., Hassanein, T., Panyard-Davis, J., & Barshop, B. A. (2006). Domino liver transplantation in maple syrup urine disease. Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 12(5), 876–882. https://doi.org/10.1002/lt.20744
  • Koç, İ., & Eryurt, M. A. (2017). THE CAUSAL RELATIONSHIP BETWEEN CONSANGUINEOUS MARRIAGES AND INFANT MORTALITY IN TURKEY. Journal of biosocial science, 49(4), 536–555. https://doi.org/10.1017/S002193201600033X
  • Köksal G, Gökmen H. (2019) Çocuk Hastalıklarında Beslenme Tedavisi. Hatipoğlu Yayınları:124. Sertifika No:13777. Sayfa numarası: 446-450.
  • Köksal G, Gökmen Özel H. (2008) Metabolik Hastalıklarda Beslenme. Sağlık Bakanlığı Yayın No: 728. ISBN : 978-975-590-244-9. 2008-ANKARA.
  • Köseoğlu, S . (2019). Bazı Tahıl Ürünlerinin Protein Kalite İndeksinin Protein Sindirilebilirliği – Düzeltilmiş Amino Asit Skoru (PDCAAS) Metodu ile Belirlenmesi. . Avrupa Bilim ve Teknoloji Dergisi , (17) , 477-482 . DOI: 10.31590/ejosat.633638
  • Köseoğlu, S . (2020). Besin İntoleransı ve Tanı Testleri . Avrupa Bilim ve Teknoloji Dergisi , (18) , 616-620 . DOI: 10.31590/ejosat.679424
  • Lee, J. Y., Chiong, M. A., Estrada, S. C., Cutiongco-De la Paz, E. M., Silao, C. L., & Padilla, C. D. (2008). Maple syrup urine disease (MSUD)--clinical profile of 47 Filipino patients. Journal of inherited metabolic disease, 31 Suppl 2, S281–S285. https://doi.org/10.1007/s10545-008-0859-0
  • Mazariegos, G. V., Morton, D. H., Sindhi, R., Soltys, K., Nayyar, N., Bond, G., Shellmer, D., Shneider, B., Vockley, J., & Strauss, K. A. (2012). Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience. The Journal of pediatrics, 160(1), 116–21.e1. https://doi.org/10.1016/j.jpeds.2011.06.033
  • Mescka, C. P., Wayhs, C. A., Guerreiro, G., Manfredini, V., Dutra-Filho, C. S., & Vargas, C. R. (2014). Prevention of DNA damage by L-carnitine induced by metabolites accumulated in maple syrup urine disease in human peripheral leukocytes in vitro. Gene, 548(2), 294–298. https://doi.org/10.1016/j.gene.2014.07.051
  • Muelly, E. R., Moore, G. J., Bunce, S. C., Mack, J., Bigler, D. C., Morton, D. H., & Strauss, K. A. (2013). Biochemical correlates of neuropsychiatric illness in maple syrup urine disease. The Journal of clinical investigation, 123(4), 1809–1820. https://doi.org/10.1172/JCI67217
  • Malbon K. (2006). Atlas of metabolic diseases, 2nd edition. Archives of Disease in Childhood, 91(2), 203. https://doi.org/10.1136/adc.2005.087619
  • Samour PQ, King K. (2016) Pediatrik Beslenmenin Esasları. Essentials of Pediatric Nutrition. Yayın no:1585. Sayfa Numarası:123-132.
  • Scaini, G., Jeremias, I. C., Morais, M. O., Borges, G. D., Munhoz, B. P., Leffa, D. D., Andrade, V. M., Schuck, P. F., Ferreira, G. C., & Streck, E. L. (2012). DNA damage in an animal model of maple syrup urine disease. Molecular genetics and metabolism, 106(2), 169–174. https://doi.org/10.1016/j.ymgme.2012.04.009
  • Scott, A. I., Cusmano-Ozog, K., Enns, G. M., & Cowan, T. M. (2017). Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy. Molecular genetics and metabolism, 122(4), 156–159. https://doi.org/10.1016/j.ymgme.2017.09.012
  • Scriver, C. R., Mackenzie, S., Clow, C. L., & Delvin, E. (1971). Thiamine-responsive maple-syrup-urine disease. Lancet (London, England), 1(7694), 310–312. https://doi.org/10.1016/s0140-6736(71)91041-5
  • Strauss, K. A., & Morton, D. H. (2003). Branched-chain Ketoacyl Dehydrogenase Deficiency: Maple Syrup Disease. Current treatment options in neurology, 5(4), 329–341. https://doi.org/10.1007/s11940-003-0039-3
  • Strauss, K. A., Carson, V. J., Soltys, K., Young, M. E., Bowser, L. E., Puffenberger, E. G., Brigatti, K. W., Williams, K. B., Robinson, D. L., Hendrickson, C., Beiler, K., Taylor, C. M., Haas-Givler, B., Chopko, S., Hailey, J., Muelly, E. R., Shellmer, D. A., Radcliff, Z., Rodrigues, A., Loeven, K., … Morton, D. H. (2020). Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes. Molecular genetics and metabolism, 129(3), 193–206. https://doi.org/10.1016/j.ymgme.2020.01.006
  • Strauss, K. A., Puffenberger, E. G., & Carson, V. J. (2006). Maple Syrup Urine Disease. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle.
  • Strauss, K. A., Wardley, B., Robinson, D., Hendrickson, C., Rider, N. L., Puffenberger, E. G., Shellmer, D., Moser, A. B., & Morton, D. H. (2010). Classical maple syrup urine disease and brain development: principles of management and formula design. Molecular genetics and metabolism, 99(4), 333–345. https://doi.org/10.1016/j.ymgme.2009.12.007
  • Tanacan, A., Gurbuz, B. B., Aydin, E., Erden, M., Coskun, T., & Beksac, M. S. (2019). Prenatal Diagnosis of Organic Acidemias at a Tertiary Center. Balkan journal of medical genetics : BJMG, 22(1), 29–34. https://doi.org/10.2478/bjmg-2019-0003
  • Zeltner, N. A., Huemer, M., Baumgartner, M. R., & Landolt, M. A. (2014). Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review. Orphanet journal of rare diseases, 9, 159. https://doi.org/10.1186/s13023-014-0159-8

Current Approaches in the Treatment of Maple Syrup Urinary Disease

Yıl 2021, Sayı: 25, 145 - 151, 31.08.2021
https://doi.org/10.31590/ejosat.866160

Öz

Maple Syrup Urinary Disease (MSUD), an autosomal recessive inherited disease, occurs as a result of defects in leucine, isoleucine and valine metabolism and is characterized by the odor of maple syrup in the urine. The incident of this disease is 1 / 200,000 in Turkey. The main clinical features presented by MSUD patients are ketoacidosis, impoverishment, malnutrition, apnea, ataxia, seizures, coma, psychomotor delay, hyperactivity and mental retardation. MSUD has five types as classical neonatal, intermittent, intermediate, sensitive to thiamin and connected to deficiency E3. Commonly seen the neonatal MSUD in newborns can result in coma as a resuts of malnutrition. It can result in death if left untreated. The onset of symptoms may vary depending on the amount of protein in the diet of patients. Most patients treated within a few days of the onset of symptoms survive and may not develop any neurological damage. After the correction of acute crisis attacks, long-term nutritional therapy is started to restrict Branched Chain Amino Acids (BCAAs). Such treatment must be continued for life time. Recent studies have shown that brain damage may minimize if the nutritional therapy is initiated earlier. In this review, it is aimed to emphasize the importance of nutritional therapy in individuals with MSUD.

Kaynakça

  • Abi-Wardé, M. T., Roda, C., Arnoux, J. B., Servais, A., Habarou, F., Brassier, A., Pontoizeau, C., Barbier, V., Bayart, M., Leboeuf, V., Chadefaux-Vekemans, B., Dubois, S., Assoun, M., Belloche, C., Alili, J. M., Husson, M. C., Lesage, F., Dupic, L., Theuil, B., Ottolenghi, C., … de Lonlay, P. (2017). Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease. Journal of inherited metabolic disease, 40(6), 783–792. https://doi.org/10.1007/s10545-017-0083-x
  • Aktuğlu Zeybek Ç. (2004). Doğumsal Metabolik Hastalıklarda Beslenme. Sağlıkta ve Hastalıkta Beslenme Sempozyum Dizisi No: 41 – Kasım 2004; s.217-232.
  • Altuntaş, V, Gök, M. (2020). Protein – Protein Etkileşimi Tespit Yöntemleri, Veri Tabanları ve Veri Güvenilirliği. Avrupa Bilim ve Teknoloji Dergisi, (19), 722-733 . DOI: 10.31590/ejosat.724390
  • Aygün, F., Kıykım, E., Aktuğlu-Zeybek, Ç., Zubarioğlu, T., & Cam, H. (2019). Treatment of maple syrup urine disease with high flow hemodialysis in a neonate. The Turkish journal of pediatrics, 61(1), 107–110. https://doi.org/10.24953/turkjped.2019.01.017
  • Blackburn, P. R., Gass, J. M., Vairo, F., Farnham, K. M., Atwal, H. K., Macklin, S., Klee, E. W., & Atwal, P. S. (2017). Maple syrup urine disease: mechanisms and management. The application of clinical genetics, 10, 57–66. https://doi.org/10.2147/TACG.S125962
  • Carecchio, M., Schneider, S. A., Chan, H., Lachmann, R., Lee, P. J., Murphy, E., & Bhatia, K. P. (2011). Movement disorders in adult surviving patients with maple syrup urine disease. Movement disorders : official journal of the Movement Disorder Society, 26(7), 1324–1328. https://doi.org/10.1002/mds.23629
  • Calcar S.V (2015). Nutrition Management of Maple Syrup Urine Disease. Nutrition Management of Inherited Metabolic Diseases, 173–183. doi:10.1007/978-3-319-14621-8_16
  • Chapman KA. (2014) Systemic organic acidemias: Identification, diagnosis, management and long term complications. J Pediatr Biochem. 2014;4(4):193–200.
  • DEMİR M. K,CANDA E,KAĞNICI M,ATİK Y. A,KALKAN S. U,HABİF S,ONAY H,ÇOKER M (2016). Dallı Zincirli Aminoasidopati Sonucu Gelişen Organik Asidemiler: Ege Tıp Deneyimi. The Journal of Pediatric Research, 3(2), 76 - 81.
  • Díaz, V. M., Camarena, C., de la Vega, Á., Martínez-Pardo, M., Díaz, C., López, M., Hernández, F., Andrés, A., & Jara, P. (2014). Liver transplantation for classical maple syrup urine disease: long-term follow-up. Journal of pediatric gastroenterology and nutrition, 59(5), 636–639. https://doi.org/10.1097/MPG.0000000000000469
  • Fabre, A., Baumstarck, K., Cano, A., Loundou, A., Berbis, J., Chabrol, B., & Auquier, P. (2013). Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study. Health and quality of life outcomes, 11, 158. https://doi.org/10.1186/1477-7525-11-158
  • Frazier, D. M., Allgeier, C., Homer, C., Marriage, B. J., Ogata, B., Rohr, F., Splett, P. L., Stembridge, A., & Singh, R. H. (2014). Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Molecular genetics and metabolism, 112(3), 210–217. https://doi.org/10.1016/j.ymgme.2014.05.006
  • Goedde, H. W., Langenbeck, U., Brackertz, D., Keller, W., Rokkones, T., Halvorsen, S., Kiil, R., & Merton, B. (1970). Clinical and biochemical-genetic aspects of intermittent branched-chain ketoaciduria. Report of two Scandinavian families. Acta paediatrica Scandinavica, 59(1), 83–87. https://doi.org/10.1111/j.1651-2227.1970.tb15519.x
  • Herden, U., Grabhorn, E., Santer, R., Li, J., Nadalin, S., Rogiers, X., Scherer, M. N., Braun, F., Beime, J., Lenhartz, H., Muntau, A. C., & Fischer, L. (2019). Surgical Aspects of Liver Transplantation and Domino Liver Transplantation in Maple Syrup Urine Disease: Analysis of 15 Donor-Recipient Pairs. Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 25(6), 889–900. https://doi.org/10.1002/lt.25423
  • Hoffmann, B., Helbling, C., Schadewaldt, P., & Wendel, U. (2006). Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD. Pediatric research, 59(1), 17–20. https://doi.org/10.1203/01.pdr.0000190571.60385.34
  • Kale, Y , Karaoğlu, E . (2017). Kraniyal görüntüleme bulguları ile akçaağaç şurubu idrar hastalığı . Ege Tıp Dergisi , 56 (2) , 99-101 . DOI: 10.19161/etd.344253
  • Kara A. (2012) Pediatrik Metabolizma Hastalıkları ve Beslenme Polikliniğinde Tanı Alan veya Takibe Giren Kalıtsal Metabolik Hastalığı Olan Hastaların Tanılarının, Klinik ve Laboratuar Bulgularıının Analizi ile Takip Sonuçlarının Değerlendirilmesi Uzmanlık Tezi- Adana.
  • Karahan, M. A., Sert, H., Havlioğlu, İ., & Yüce, H. H. (2014). The Anaesthetic Management of a Patient with Maple Syrup Urine Disease. Turkish journal of anaesthesiology and reanimation, 42(6), 355–357. https://doi.org/10.5152/TJAR.2014.07830
  • Kathait, A. S., Puac, P., & Castillo, M. (2018). Imaging Findings in Maple Syrup Urine Disease: A Case Report. Journal of pediatric neurosciences, 13(1), 103–105. https://doi.org/10.4103/JPN.JPN_38_17
  • Khanna, A., Hart, M., Nyhan, W. L., Hassanein, T., Panyard-Davis, J., & Barshop, B. A. (2006). Domino liver transplantation in maple syrup urine disease. Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 12(5), 876–882. https://doi.org/10.1002/lt.20744
  • Koç, İ., & Eryurt, M. A. (2017). THE CAUSAL RELATIONSHIP BETWEEN CONSANGUINEOUS MARRIAGES AND INFANT MORTALITY IN TURKEY. Journal of biosocial science, 49(4), 536–555. https://doi.org/10.1017/S002193201600033X
  • Köksal G, Gökmen H. (2019) Çocuk Hastalıklarında Beslenme Tedavisi. Hatipoğlu Yayınları:124. Sertifika No:13777. Sayfa numarası: 446-450.
  • Köksal G, Gökmen Özel H. (2008) Metabolik Hastalıklarda Beslenme. Sağlık Bakanlığı Yayın No: 728. ISBN : 978-975-590-244-9. 2008-ANKARA.
  • Köseoğlu, S . (2019). Bazı Tahıl Ürünlerinin Protein Kalite İndeksinin Protein Sindirilebilirliği – Düzeltilmiş Amino Asit Skoru (PDCAAS) Metodu ile Belirlenmesi. . Avrupa Bilim ve Teknoloji Dergisi , (17) , 477-482 . DOI: 10.31590/ejosat.633638
  • Köseoğlu, S . (2020). Besin İntoleransı ve Tanı Testleri . Avrupa Bilim ve Teknoloji Dergisi , (18) , 616-620 . DOI: 10.31590/ejosat.679424
  • Lee, J. Y., Chiong, M. A., Estrada, S. C., Cutiongco-De la Paz, E. M., Silao, C. L., & Padilla, C. D. (2008). Maple syrup urine disease (MSUD)--clinical profile of 47 Filipino patients. Journal of inherited metabolic disease, 31 Suppl 2, S281–S285. https://doi.org/10.1007/s10545-008-0859-0
  • Mazariegos, G. V., Morton, D. H., Sindhi, R., Soltys, K., Nayyar, N., Bond, G., Shellmer, D., Shneider, B., Vockley, J., & Strauss, K. A. (2012). Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience. The Journal of pediatrics, 160(1), 116–21.e1. https://doi.org/10.1016/j.jpeds.2011.06.033
  • Mescka, C. P., Wayhs, C. A., Guerreiro, G., Manfredini, V., Dutra-Filho, C. S., & Vargas, C. R. (2014). Prevention of DNA damage by L-carnitine induced by metabolites accumulated in maple syrup urine disease in human peripheral leukocytes in vitro. Gene, 548(2), 294–298. https://doi.org/10.1016/j.gene.2014.07.051
  • Muelly, E. R., Moore, G. J., Bunce, S. C., Mack, J., Bigler, D. C., Morton, D. H., & Strauss, K. A. (2013). Biochemical correlates of neuropsychiatric illness in maple syrup urine disease. The Journal of clinical investigation, 123(4), 1809–1820. https://doi.org/10.1172/JCI67217
  • Malbon K. (2006). Atlas of metabolic diseases, 2nd edition. Archives of Disease in Childhood, 91(2), 203. https://doi.org/10.1136/adc.2005.087619
  • Samour PQ, King K. (2016) Pediatrik Beslenmenin Esasları. Essentials of Pediatric Nutrition. Yayın no:1585. Sayfa Numarası:123-132.
  • Scaini, G., Jeremias, I. C., Morais, M. O., Borges, G. D., Munhoz, B. P., Leffa, D. D., Andrade, V. M., Schuck, P. F., Ferreira, G. C., & Streck, E. L. (2012). DNA damage in an animal model of maple syrup urine disease. Molecular genetics and metabolism, 106(2), 169–174. https://doi.org/10.1016/j.ymgme.2012.04.009
  • Scott, A. I., Cusmano-Ozog, K., Enns, G. M., & Cowan, T. M. (2017). Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy. Molecular genetics and metabolism, 122(4), 156–159. https://doi.org/10.1016/j.ymgme.2017.09.012
  • Scriver, C. R., Mackenzie, S., Clow, C. L., & Delvin, E. (1971). Thiamine-responsive maple-syrup-urine disease. Lancet (London, England), 1(7694), 310–312. https://doi.org/10.1016/s0140-6736(71)91041-5
  • Strauss, K. A., & Morton, D. H. (2003). Branched-chain Ketoacyl Dehydrogenase Deficiency: Maple Syrup Disease. Current treatment options in neurology, 5(4), 329–341. https://doi.org/10.1007/s11940-003-0039-3
  • Strauss, K. A., Carson, V. J., Soltys, K., Young, M. E., Bowser, L. E., Puffenberger, E. G., Brigatti, K. W., Williams, K. B., Robinson, D. L., Hendrickson, C., Beiler, K., Taylor, C. M., Haas-Givler, B., Chopko, S., Hailey, J., Muelly, E. R., Shellmer, D. A., Radcliff, Z., Rodrigues, A., Loeven, K., … Morton, D. H. (2020). Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes. Molecular genetics and metabolism, 129(3), 193–206. https://doi.org/10.1016/j.ymgme.2020.01.006
  • Strauss, K. A., Puffenberger, E. G., & Carson, V. J. (2006). Maple Syrup Urine Disease. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle.
  • Strauss, K. A., Wardley, B., Robinson, D., Hendrickson, C., Rider, N. L., Puffenberger, E. G., Shellmer, D., Moser, A. B., & Morton, D. H. (2010). Classical maple syrup urine disease and brain development: principles of management and formula design. Molecular genetics and metabolism, 99(4), 333–345. https://doi.org/10.1016/j.ymgme.2009.12.007
  • Tanacan, A., Gurbuz, B. B., Aydin, E., Erden, M., Coskun, T., & Beksac, M. S. (2019). Prenatal Diagnosis of Organic Acidemias at a Tertiary Center. Balkan journal of medical genetics : BJMG, 22(1), 29–34. https://doi.org/10.2478/bjmg-2019-0003
  • Zeltner, N. A., Huemer, M., Baumgartner, M. R., & Landolt, M. A. (2014). Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review. Orphanet journal of rare diseases, 9, 159. https://doi.org/10.1186/s13023-014-0159-8
Toplam 40 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Mühendislik
Bölüm Makaleler
Yazarlar

Elif Maden 0000-0001-8697-7469

Sümeyye Uçak 0000-0003-1563-8464

Yayımlanma Tarihi 31 Ağustos 2021
Yayımlandığı Sayı Yıl 2021 Sayı: 25

Kaynak Göster

APA Maden, E., & Uçak, S. (2021). Akçaağaç Şurubu Hastalığının Beslenme Tedavisinde Güncel Yaklaşımlar. Avrupa Bilim Ve Teknoloji Dergisi(25), 145-151. https://doi.org/10.31590/ejosat.866160