Elif MADEN, Sümeyye UÇAK, Yasemin YILMAZER

Akçaağaç Şurubu Hastalığının Beslenme Tedavisinde GüncelYaklaşımlar

Akçaağaç Şurubu İdrar Hastalığı (Maple Syrup Urinary Disease; MSUD) lösin, izolösin ve valin metabolizmasındaki bozukluk sonucuoluşan, idrarda akçaağaç şurubu kokusu ile karakterize otozomal resesif geçişli bir hastalıktır. Bu hastalığın Türkiye’de görülme sıklığı1/200.000’dir. MSUD hastaları tarafından sunulan başlıca klinik özellikler arasında ketoasidoz, büyüme gelişme geriliği, yetersizbeslenme, apne, ataksi, nöbetler, koma, psikomotor gecikme, hiperaktivite ve zihinsel gerilik görülmektedir. Akçaağaç şurubu idrarhastalığının klasik, aralıklı, orta düzey, tiamine duyarlı, E3 eksikliğine bağlı olmak üzere beş tipi bulunmaktadır. Yaygın olarakyenidoğanlarda görülen klasik MSUD, yetersiz beslenmeden kaynaklı olarak komayla ve tedavi edilmezse ölümle sonuçlanabilir. Semptomların görülmeye başlaması, protein alım miktarına bağlı olarak değişebilir. Semptomların başlamasından sonraki birkaç güniçinde tedavi edilen hastaların çoğu hayatta kalır ve herhangi bir nörolojik hasar geliştirmeyebilir. Akut kriz ataklarının düzeltilmesindensonra Dallı Zincirli Amino Asit’leri (DZAA) kısıtlamaya yönelik uzun süreli beslenme tedavisine geçilir ve bu tedavinin yaşam boyusürdürülmesi gerekmektedir. Son yıllarda yapılan araştırmalar, beslenme tedavisine erken başlanılması halinde oluşabilecek beyinhasarlarının en aza indirgendiği gösterilmiştir. Bu derlemede akçaağaç şurubu idrar hastalığı bulunan bireylerde beslenme tedavisininöneminin vurgulanması amaçlanmıştır.

Current Approaches in the Treatment of Maple Syrup Urinary Disease

Maple Syrup Urinary Disease (MSUD), an autosomal recessive inherited disease, occurs as a result of defects in leucine, isoleucine andvaline 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, growth and development retardation, 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 comaas a resuts of malnutrition. It can result in death if left untreated. The onset of symptoms may vary depending on the amount of proteinin the diet of patients. Most patients treated within a few days of the onset of symptoms survive and may not develop any neurologicaldamage. After the correction of acute crisis attacks, long-term nutritional therapy is started to restrict Branched Chain Amino Acid.Such treatment must be continued for life time. Recent studies have shown that brain damage may minimize if the nutritional therapyis initiated earlier. In this review, it is aimed to emphasize the importance of nutritional therapy in individuals with MSUD.

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