We studied the alpha-oxidation of phytanic acid in human fibroblasts of controls and patients affected with classical Refsum disease, rhizomelic chondrodysplasia punctata, generalized peroxisomal disorders and peroxisomal bifunctional protein deficiency. Cultured fibroblasts were incubated with phytanic acid, after which medium and cells were collected separately. 2-Hydroxyphytanic acid and pristanic acid were measured in the medium and cells by stable isotope dilution gas chromatography mass spectrometry. In controls, 2-hydroxyphytanic acid and pristanic acid could be detected in the medium after incubation with phytanic acid, proving that alpha-oxidation of phytanic acid via 2-hydroxyphytanoyl-CoA to pristanic acid was active and intermediates were excreted into the medium. In cells from patients with a defective alpha-oxidation (Refsum disease, rhizomelic chondrodysplasia punctata and generalized peroxisomal disorders) 2-hydroxyphytanic acid and pristanic acid were low or not detectable, showing that in these disorders the hydroxylation of phytanoyl-CoA to 2-hydroxyphytanoyl-CoA is deficient. In cells with a peroxisomal beta-oxidation defect, 2-hydroxyphytanic acid and pristanic acid were formed in amounts comparable to those in the controls.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/s0925-4439(97)00045-8 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Zellweger spectrum disorder presenting with opsoclonus-myoclonus-ataxia syndrome: a case report on immunotherapy.
Acta Neurol Belg
January 2025
Department of Pediatrics, Neurology Unit, University of Health Sciences, Ankara Etlik City Hospital, Ankara, Turkey.
Introduction: Zellweger spectrum disorder (ZSD) refers to a group of autosomal recessive genetic disorders that affect multiple organ systems and are predominantly caused by pathogenic variants in PEX genes. ZSD present a wide clinical spectrum, ranging from the most severe form, Zellweger syndrome, to the mildest form, Heimler syndrome.
Case Report: A 14-month-old male patient was brought to our clinic with recent-onset ocular tremors and unsteady gait.
Conductive hyaluronic acid/phytanic acid hydrogel to deliver recombinant human amelogenin for diabetic wound repair.
Int J Biol Macromol
January 2025
Department of Anatomy, Hunan University of Chinese Medicine, Changsha 410208, China. Electronic address:
Diabetic wounds present a considerable challenge in modern medicine due to their prolonged healing process, driven by sustained inflammation and impaired vascular regeneration. This study introduces a novel hydrogel network through osmosis, utilizing hyaluronic acid (HA) and phytic acid (PA) for their anti-inflammatory and antioxidant properties, respectively. By incorporating recombinant Human Amelogenin (rhAM), known for its angiogenic potential, we aimed to develop the HA-PA-rhAM hydrogel to enhance wound healing in diabetic rats.
View Article and Find Full Text PDFPreparation and Application of a Urea-Formaldehyde-Blended Guanidinium Azole-Phytic Acid-Copper Flame-Retardant Resin Coating.
Polymers (Basel)
November 2024
School of Materials Science and Engineering, Guilin University of Electronic Science and Technology, Guilin 541004, China.
In this study, environmentally friendly flame retardants capable of efficient flame retardancy at low concentrations in wood were developed. Urea-formaldehyde (UF) resin and guanidinium azole (GZ)-phytate (PA)-copper hydroxide (Cu(OH)) flame-retardant resin coating blends were prepared using urea, formaldehyde, 3,5-diamino-1,2,4-triazole (GZ), phytanic acid (PA), and copper hydroxide (Cu(OH)). Employing dioctyl phthalate as the plasticizer and tannic acid as the curing agent, a three-stage reaction was performed to obtain the desired UF-GZ/PA/Cu as a bio-based flame retardant.
View Article and Find Full Text PDFVariable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literature.
JIMD Rep
September 2024
Department of Rare Diseases, Institute of Graduate Studies in Health Sciences Istanbul University Istanbul Turkey.
Alpha-methylacyl-CoA-racemase (AMACR) deficiency (MIM#604489) is a peroxisomal disorder resulting in the accumulation of pristanic acid, dihydroxycholestanoic acid (DHCA), and trihydroxycholestanoic acid (THCA), with variable clinical features and age of onset from infancy to late adulthood. The purpose of this report is to define clinical variations and follow-up data in AMACR deficiency emphasizing treatment with a review of cases reported in the literature. Here, four patients, from two families, diagnosed with AMACR deficiency and showing phenotypic heterogeneity are presented.
View Article and Find Full Text PDFDilated cardiomyopathy revealing Refsum disease: a case report.
J Med Case Rep
September 2024
Cardiology Department, Ibn Rochd Hospital University, Casablanca, Morocco.
Article Synopsis
- Refsum disease is a rare genetic disorder affecting lipid metabolism, leading to the buildup of phytanic acid and resulting in symptoms like ataxia, neuropathy, and hearing loss, with potential cardiac issues developing later in life.
- A case study presented a 38-year-old man who experienced acute heart failure due to dilated cardiomyopathy, confirmed by high levels of phytanic acid, illustrating that cardiac problems are common in advanced Refsum disease.
- Management options for Refsum disease include dietary restrictions on phytanic acid and lipid apheresis to alleviate symptoms and improve patients' quality of life.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!