An Overview of β-Oxidation Disorders
Journal Title: Advances in Hygiene and Experimental Medicine - Year 2009, Vol 63, Issue
Abstract
Fatty acids (FAs) are components of cell membrane, enzymes, and hormones and are one of the most important energy sources for many organisms. There are several types of fatty-acid oxidative degradation processes in the cell, namely alpha-, beta-, and omega-oxidation, which take place in specialized cellular structures: mitochondria and peroxisomes. The best-known pathway is β-oxidation taking place in the matrix of mitochondria. It is responsible for the degradation of straight-chain FAs. The pathway of β-oxidation of fatty acids is comprised of at least 25 enzymes and specific transport proteins. Deficiencies in 18 of them have been demonstrated to cause disease in humans. These diseases show a wide variety of symptoms, which can be expressed at random, one at a time, or in sets, characteristic of the individual rather than the metabolic character of the disease. Disorders of β-oxidation are believed to cause about 1–3% of unexplained sudden infant deaths (SIDS). Acute fatty liver of pregnancy (AFLP) and the syndrome of hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome), which have significant neonatal and maternal morbidity and mortality, have also been associated with β-oxidation deficiency in fetuses. This review summarizes recent observations on disorders associated with fatty-acid oxidation: deficiencies of β-oxidation enzymes, namely VLCAD, TFP and LCHAD, MCAD, MCKAT, M/SCHAD, and SCAD, and deficiencies of the enzymes TCP I, CT, and CPT II of the carnitine cycle.
Authors and Affiliations
Dariusz Moczulski, Iwona Majak
Keywords
Related Articles
- EP ID EP66340
- DOI -
- Views 173
- Downloads 0
Regulacja odpowiedzi zapalnej zależnej od receptorów Toll-podobnych*
Receptory Toll-podobne (TLR) należą do jednych z najważniejszych elementów wrodzonej odpowiedzi odpornościowej. Rozpoznając czynniki chorobotwórcze przekazują sygnał do wnętrza komórki, który uruchamia procesy mające na...
Egg yolk proteins and peptides with biological activity
Many proteins of food reveal biological activity. In the sequence of these proteins also numerous biologically active peptides are encrypted. These peptides are released during proteolysis naturally occurring in the gast...
p75NTR receptor – role in cell growth and apoptosis
The neurotrophins play an important role in the development of the nervous system. These trophic factors affect the cells through the neurotrophin receptors Trk and p75NTR. Trk (tyrosine kinase receptor) mediated signal...
Antioxidant activity of selected phenols estimated by ABTS and FRAP methods
Introduction: Phenols are the most abundant compounds in nature. They are strong antioxidants. Too high level of free radicals leads to cell and tissue damage, which may cause asthma, Alzheimer disease, cancers, etc. Tak...
Niefarmakologiczna modyfikacja funkcji śródbłonka – ważna lekcja w praktyce klinicznej
During the last few generations a rapid increase in the prevalence of cardiovascular diseases has been observed. This epidemiologic fact is in a wide range due to endothelial dysfunction. Endothelium, the inner layer of...