Cumhuriyet Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi

Yazarlar: Mücahit MUSLU, Cansu KÖK

Konular:Sağlık Bilimleri ve Hizmetleri

DOI:10.51754/cusbed.781861

Anahtar Kelimeler:Maple syrup urine disease,Nutrition,Branched-chain aminoacids

Özet: 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.

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