Akçaağaç Şurubu İdrar Hastalığı Ve Tıbbi Beslenme Tedavisi

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

Maple Syrup Urine Disease and Medical Nutrition Therapy

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

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