Propiyonik Asidemi ve Beslenme Tedavisi

Year 2019, Volume: 1 Issue: 3, 33 - 37, 16.07.2019

Cahit Erkul , Hande Öngün Yılmaz

Abstract

Propiyonik asidemi
(PA), dallı zincirli amino asit katabolizmasının metabolitlerinin birikmesi ile
karakterize, otozomal resesif geçişli propiyonat katabolizması bozukluğudur.
Küresel Propiyonik Asidemi  insidansı 1:
100,000'dir ve Japonya'da 1: 17,400, Almanya'da 1: 250,000 arasında
değişmektedir. Akut hastalık metabolik asidoz, bilinç değişiklikleri,
ensefalopati, anoreksiya ve bulantı-kusmaya sebep olurken, kronik
komplikasyonlar arasında zayıf büyüme, hareket bozuklukları, epilepsi bulunur.
PCC eksikliğinde metabolik olarak aktif olan propiyonil-CoA'nın birikmesi,
diğer birçok metabolik yolağı etkiler ve çeşitli organik asitlerin yüksek
üriner konsantrasyonlarına yol açar. Karnitin, propiyonik asidemi tarafından
indüklenen DNA hasarını azaltır. Karaciğer transplantasyonu metabolik defektin
sadece kısmi düzeltilmesini sağlar. Beslenme tedavisinin amacı propionat üretimini
azaltmaktır. Bunun için düşük proteinli bir diyet kullanarak prekürsör amino
asitlerin kısıtlanması uzun süreli açlıktan kaçınılması gerekmektedir.
Hastalığın iyileşme sürecinde beslenme tedavisi önem taşımaktadır. Bu nedenle
mutlaka bir beslenme uzmanından yardım alınması gerekmektedir. 

Keywords

Diyet, Karnitin, Propiyonik Asidemi

Propionic Acidemia And Diet Therapy

Abstract

Propionic acidemia (PA) is an autosomal recessive propionate catabolism disorder characterized by the accumulation
of metabolites of branched-chain amino acid catabolism. Acute disease causes metabolic acidosis, changes in
consciousness, encephalopathy, anorexia and nausea-vomiting, while chronic complications include poor growth,
movement disorders, and epilepsy. The accumulation of propionyl-CoA, which is metabolically active in PCC
deficiency, affects many other metabolic pathways, increasing the concentrations of organic acids in the urea.
Carnitine supplementation, liver transplantation and low-protein diet therapy are some of the important methods in the
treatment of the disease. Carnitine reduces DNA damage induced by propionic acidemia. Liver transplantation
provides only partial correction of metabolic defect. The aim of nutritional therapy is to reduce the production of
propionate. For this reason, prolonged starvation should be avoided by limiting precursor amino acids using a low
protein diet. It is important that patients practice their diet without disrupting their diet.

Keywords

Diet, Carnitine, Propionic Acidemia

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