Akçaağaç Şurubu İdrar Hastalığı ve Beslenme

Öz

Akçaağaç şurubu idrar hastalığı MSUD dallı zincirli amino asitler BCAA olan valin, izolösin ve lösin metabolizmasındaki bozuklukla karakterize bir metabolizma hastalığıdır. İdrar ve plazmada dallı zincirli amino asit artışı gözlenmektedir. İdrarda hastalığın adını aldığı akçaağacı kokusu bulunmaktadır. Otozomal resesif geçişli nadir görülen hastalık, klinik seyir ve tiamine verilen yanıta göre beş tipte incelenmektedir. Hastalığın tıbbi beslenme tedavisi ise akut atak dönem ve uzun süreli diyet uygulaması olmak üzere iki aşamadan oluşmaktadır. Akut dönemde beslenme hedefi vücut sıvıları ve dokularında dallı zincirli amino asitleri ve artık ürünlerini uzaklaştırmaktır. Anne sütüyle beslenen bebeklerde sütün lösin içeriği nedeniyle emzirme sonlandırılabilir. Uzun süreli MSUD beslenme planlamasında ise metabolik kontrolün sağlanması, hastalığın erken tespiti, hastalıkla gelişen nörolojik bozuklukların ve zekâ puanındaki düşüşlerin azaltılması amaçlanmaktadır. Beslenmede dallı zincirli amino asit düzeyini gösteren besin değişim listelerinin kullanılması önerilmektedir. Hastalara dallı zincirli amino asit içermeyen formülalar ile destek sağlanabilir. Bireylerde klinik durumun ve diyetin takibi önemlidir

Anahtar Kelimeler

• Dallı Zincirli Amino Asit (BCAA), Akçaağaç Şurubu İdrar Hastalığı (MSUD), Tıbbi Beslenme Tedavisi

Maple Syrup Urine Disease and Nutrition

Abstract

Maple syrup urine disease MSUD is a metabolic disease characterized by a defect in the metabolism of valine, isoleucine, and leucine, which are branched-chain amino acids BCAA . An increase in branched-chain amino acids is observed in the urine and plasma. In the urine, there is a maple smell that the disease takes its name from. This rare autosomal recessive disorder is studied in five types according to the clinical course and response to thiamine. Medical nutrition therapy has two stages. Dietary treatments are applied during the acute attack period and over the long-term. The aim of nutrition in the acute period is to remove branched-chain amino acids and residual products in the body fluids and tissues. Breastfeeding might need to be terminated due to the leucine content of the milk. The aim of long-term MSUD nutrition planning is providing metabolic control, early detection of the disease, and reduction of neurological disorders. Nutrient exchange lists showing the level of branched-chain amino acids within the diet are recommended. Support might be provided with formulas that do not contain branched-chain amino acids. The follow-up of the clinical condition and diet is important in these patients

Keywords

• Branched Chain Amino Acid (BCAA), Maple Syrup Urine Disease (MSUD), Medical Nutrition Therapy

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