Propiyonik Asidemi ve Beslenme Tedavisi

Abstract

Otozomal resesif geçişli bir hastalık olan propiyonik asidemi, propiyonil CoA karboksilaz eksikliğinden kaynaklanmaktadır. Propiyonik asidemi, kişinin hayatının herhangi bir döneminde ortaya çıkabilen ve çeşitli semptomlara yol açabilen genetik bir durumdur. Sağlıklı bireylerde valin, metiyonin, treonin ve izolösin aminoasitlerinden propiyonil CoA sentezlenmektedir. Propiyonil CoA, propiyonil CoA karboksilaz (biyotin bağımlı) enzimi yardımıyla metilmalonil CoA'ya dönüştürülür. Ancak propiyonik asidemi hastalarında, propiyonil CoA karboksilaz enzimindeki eksiklik nedeniyle propiyonik asit birikir ve plazma seviyeleri yükselir. Propiyonik asidemi tedavileri, metionin, treonin, valin, izolösin ve tek zincirli yağ asitlerini sınırlayan diyet kısıtlamalarını kapsamaktadır. Katabolizmayı önlemek için yeterli enerji alımının sağlanması çok önemlidir. Ek olarak, l-karnitin takviyesinin hipoglisemi, asidoz ve hiperammonemiye yönelik semptomatik tedavilerde de kullanıldığı bildirilmektedir. Protein kısıtlamasında iki ana yaklaşım bulunmaktadır. Birinci yaklaşım, günlük alınması gereken toplam protein, besinlerden veya standart infant formüladan elde edilen doğal proteinin ve sentetik amino asit karışımlarının birleştirilmesini (genellikle en az %50 doğal/sentetik) içermektedir. İkinci yaklaşım, öncelikle önerilen diyete yakın veya daha az miktarlarda tek başına doğal protein kullanımını içermektedir. Anne sütü, Propiyonik asidemi hastası bebekler için genellikle önerilen bir besin kaynağı olarak bildirilmektedir. Bebeklerde ek gıdaya geçiş sürecinde, anne sütü veya tıbbi formül mama miktarının kademeli olarak azaltılarak ek gıda tüketiminin teşvik edilmesinin yararlı olduğu bildirilmekte ve bu sürecin klinik ve laboratuvar değerlendirmelerine göre yönetilmesi önerilmektedir. Bu süreçte diyetisyenlerin rolü kritik olup, metabolik durumun doğru yönetilmesi için düzenli izleme ve gerekli düzenlemeler ile kişiye özel bir diyet planının oluşturulması önem arz etmektedir.

Keywords

• diyet
• propiyonik asidemi
• propiyonil CoA karboksilaz

Propionic Acidemia and Nutrition Therapy

Abstract

Propionic acidemia, an autosomal recessive disorder, is caused by a deficiency of propionyl CoA carboxylase. Propionic acidemia is a genetic condition that can occur at any time in a person's life and leads to a variety of symptoms. In healthy individuals, propionyl CoA is synthesized from the amino acids valine, methionine, threonine and isoleucine. Propionyl CoA is converted to methylmalonyl CoA by the enzyme propionyl CoA carboxylase (biotin-dependent). However, in patients with propionic acidemia, propionic acid accumulates and plasma levels rise due to a deficiency in the enzyme propionyl CoA carboxylase. Treatments for propionic acidemia include dietary restrictions limiting methionine, threonine, valine, isoleucine and single-chain fatty acids. It is very important to ensure adequate energy intake to prevent catabolism. In addition, l-carnitine supplementation has been reported to be used in symptomatic treatments for hypoglycemia, acidosis and hyperammonemia. There are two main approaches to protein restriction. The first approach involves a combination of total daily protein intake, natural protein from food or standard infant formula, and synthetic amino acid mixtures (usually at least 50% natural/synthetic). The second approach primarily involves the use of natural protein alone in amounts close to or less than the recommended diet. Breast milk is a generally recommended food source for infants with propionic acidemia. During the transition to supplementary food in infants, it is reported to be beneficial to encourage supplementary food consumption by gradually decreasing the amount of breast milk or medical formula and it is recommended that this process be managed according to clinical and laboratory evaluations. The role of dietitians is critical in this process, and it is important to establish a personalized diet plan with regular monitoring and necessary adjustments to manage the metabolic status correctly.

Keywords

• diet
• propionic acidemia
• propionyl CoA carboxylase

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