Results 11 to 20 of about 2,517,871 (188)

Characterization of the Final Step in the Conversion of Phytol into Phytanic Acid [PDF]

Journal of Biological Chemistry, 2005
Phytol is a branched-chain fatty alcohol that is a naturally occurring precursor of phytanic acid, a fatty acid involved in the pathogenesis of Refsum disease. The conversion of phytol into phytanic acid is generally believed to take place via three enzymatic steps that involve 1) oxidation to its aldehyde, 2) further oxidation to phytenic acid, and 3)
van den Brink, Daan M., van Miert, Joram N. I., Dacremont, Georges, Rontani, Jean-François, Wanders, Ronald J. A.   +4 more
openaire   +4 more sources

Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts

Journal of Lipid Research, 1998
The relationship between peroxisomal and mitochondrial oxidation of the methyl branched fatty acids, phytanic acid and pristanic acid, was studied in normal and mutant human skin fibroblasts with established enzyme deficiencies.
Nanda M. Verhoeven, Diane S. Roe, Robert M. Kok, Ronald J.A. Wanders, Cornelis Jakobs, Charles R. Roe   +5 more
doaj   +2 more sources

A unique case of microspherophakia in adult Refsum disease [PDF]

American Journal of Ophthalmology Case Reports
Adult Refsum disease (RD) is a rare autosomal recessive peroxisomal disorder with an estimated prevalence of fewer than 1 in 1 million. The ocular manifestations result from the accumulation of phytanic acid, leading to retinitis pigmentosa, attenuated ...
Catherine Liu, Sydney Galindez, Emily Laurent, David Hinkle   +3 more
doaj   +2 more sources

Dilated cardiomyopathy revealing Refsum disease: a case report [PDF]

Journal of Medical Case Reports
Background Refsum disease is a rare autosomal recessive hereditary disorder of lipid metabolism that results in the accumulation of phytanic acid. This syndrome is characterized with a range of classic symptoms including ataxia, peripheral neuropathy ...
Salim Arous, Ilyas Atlas, Amina Arous, Hatim Zahidi, El Ghali Mohamed Benouna, Rachida Habbal   +5 more
doaj   +2 more sources

Adult Refsum Disease: Case Series of Reducing Circulating Phytanic Acid Levels With Dietary Interventions. [PDF]

JIMD Rep
ABSTRACT Adult Refsum disease (ARD, OMIM #266510) is an autosomal recessive condition, resulting in phytanic acid (PA) accumulation in plasma and tissue. The management of ARD relies on a low PA diet, but the importance of adequate energy and carbohydrate provision in reducing circulating PA levels and preventing metabolic crisis is less well described.
Firman SJ, Cook J, Hall I, Yeung K, Buttigieg R, Vaz F, Wierzbicki AS, Ramachandran R.   +7 more
europepmc   +2 more sources

Dietary influences on tissue concentrations of phytanic acid and AMACR expression in the benign human prostate. [PDF]

Prostate, 2015
BACKGROUND: Alpha-methylacyl-CoA racemase (AMACR) is an enzyme involved in fatty acid metabolism that is markedly over-expressed in virtually all prostate cancers (PCa), relative to benign tissue.
Kataria Y, Wright M, Deaton RJ, Rueter EE, Rybicki BA, Moser AB, Ananthanrayanan V, Gann PH.   +7 more
europepmc   +3 more sources

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. [PDF]

JIMD Rep, 2016
Infantile Refsum disease (IRD) is one of the less severe of Zellweger spectrum disorders (ZSDs), a group of peroxisomal biogenesis disorders resulting from a generalized peroxisomal function impairment.
Sá MJ, Rocha JC, Almeida MF, Carmona C, Martins E, Miranda V, Coutinho M, Ferreira R, Pacheco S, Laranjeira F, Ribeiro I, Fortuna AM, Lacerda L.   +12 more
europepmc   +3 more sources

Estimated phytanic acid intake and prostate cancer risk: A prospective cohort study [PDF]

International Journal of Cancer, 2012
Demetrius Albanes, Margaret E Wright, Peter H Gann   +2 more
exaly   +2 more sources

INFANTILE PHYTANIC ACID STORAGE DISEASE: A DEFECT IN PHYTANIC ACID OXIDATION [PDF]

Pediatric Research, 1984
Refsum's disease is caused by deficient activity of phytanic acid a oxidase; phytanic acid may account for 30% of plasma fatty acids. Four cases of infantile phytanic acid storage disease have been reported. We describe 2 other unrelated infants.
N Buist, S Budden, R Weleber, N Kennaway
openaire   +1 more source

Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid

Case Reports in Ophthalmological Medicine, 2021
Infantile Refsum disease is a rare peroxisomal biogenesis disorder characterized by impaired alpha-oxidation and accumulation of phytanic acid in the tissues. Patients often present with fundus changes resembling retinitis pigmentosa, developmental delay,
Omar Elghawy, Alice Y. Zhang, Ryan Duong, William G. Wilson, Eugene Y. Shildkrot   +4 more
doaj   +1 more source