Akçaağaç Şurubu Hastalığının Beslenme Tedavisinde Güncel Yaklaşımlar

Abstract

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.

Keywords

• MSUD
• Lösin
• İzolösin
• Valin,
• Beslenme Tedavisi

Current Approaches in the Treatment of Maple Syrup Urinary Disease

Abstract

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.

Keywords

• MSUD
• Leucine
• Isoleucine
• Valine
• Nutritional Treatment

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