A new peroxisomal β‐oxidation disorder in twin neonates: Defective oxidation of both cerotic and pristanic acids

Abstract

A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids Christensen, E.; Anker Pedersen, S.; Leth, H.; Jakobs, C.; Schutgens, R.B.H.; Wanders, R.J.A.

B. subtilis ykuD protein at 2.0 Å resolution: Insights into the structure and function of a novel, ubiquitous family of bacterial enzymes

“…For another 20 patients, clinical information was provided by the responsible physician, but no questionnaire was completed. For 12 patients, information about the clinical presentation was published previously14, 18–24, 32–34; for 3 of these 12 patients, a questionnaire also was filled out. For all 126 patients, DBP deficiency was established by enzyme activity measurements.…”

“…Currently, a complete overview of clinical and biochemical abnormalities for DBP deficiency, which is of crucial importance for proper diagnosis, prognosis, and management of the disorder, is lacking. Only a small number of patients has been described, and for several patients reported with an isolated peroxisomal β‐oxidation defect, the final diagnosis was never made, and therefore it is uncertain whether these patients have an DBP deficiency 18–24. In this article, we describe the results of our studies in a large cohort of 126 DBP‐deficient patients with particular emphasis on the clinical signs and symptoms and the biochemical findings in fibroblasts, plasma, and erythrocytes.…”

Artemisia dracunculus L. essential oil phytochemical components trigger the activity of cellular antioxidant enzymes

“…So, triggering the activity of such enzymes by external factors may be of interest. Besides this, one of the well‐studied neurodegenerative disorders is acyl‐CoA oxidase type 1 (ACOX1) deficiency (Christensen et al., 1997; Wanders & Waterham, 2006). This disorder is due to a selective impairment of the peroxisomal fatty acid beta‐oxidation pathway in the absence of ACOX1 activity, the first and rate‐limiting enzyme, affecting specifically the oxidation of very‐long‐chain fatty acids (VLCFA) and leading to their accumulation in plasma and tissues (Ferdinandusse et al., 2007; Wanders & Waterham, 2006).…”