Propionic Acidemia and Nutrition Therapy

Yıl 2024, Cilt: 5 Sayı: 3, 93 - 100, 30.12.2024

İlsu Aldatmaz , Kübra Derya İpek

https://doi.org/10.58208/cphs.1469501

Öz

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.

Anahtar Kelimeler

diet, propionic acidemia, propionyl CoA carboxylase

Propiyonik Asidemi ve Beslenme Tedavisi

Öz

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.

Anahtar Kelimeler

diyet, propiyonik asidemi, propiyonil CoA karboksilaz

Kaynakça

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