Phytanate (BioDeep_00000004722)

 

Secondary id: BioDeep_00000019509, BioDeep_00000405369

human metabolite Endogenous blood metabolite


代谢物信息卡片


3,7,11,15-Tetramethylhexadecoanoic acid

化学式: C20H40O2 (312.302814)
中文名称: 植烷酸
谱图信息: 最多检出来源 Homo sapiens(blood) 0.11%

Reviewed

Last reviewed on 2024-09-14.

Cite this Page

Phytanate. BioDeep Database v3. PANOMIX ltd, a top metabolomics service provider from China. https://query.biodeep.cn/s/phytanate (retrieved 2024-09-17) (BioDeep RN: BioDeep_00000004722). Licensed under the Attribution-Noncommercial 4.0 International License (CC BY-NC 4.0).

分子结构信息

SMILES: CC(C)CCCC(C)CCCC(C)CCCC(C)CC(=O)O
InChI: InChI=1S/C20H40O2/c1-16(2)9-6-10-17(3)11-7-12-18(4)13-8-14-19(5)15-20(21)22/h16-19H,6-15H2,1-5H3,(H,21,22)

描述信息

Phytanic acid (or 3,7,11,15-tetramethylhexadecanoic acid) is a 20-carbon branched-chain fatty acid that humans can obtain through the consumption of dairy products, ruminant animal fats, and certain fish. It is primarily formed by bacterial degradation of chlorophyll in the intestinal tract of ruminants. Unlike most fatty acids, phytanic acid cannot be metabolized by beta-oxidation (because of a methyl group in the beta position). Instead, it undergoes alpha-oxidation in the peroxisome, where it is converted into pristanic acid by the removal of one carbon. Pristanic acid can undergo several rounds of beta-oxidation in the peroxisome to form medium-chain fatty acids that can be converted into carbon dioxide and water in mitochondria. Refsum disease, an autosomal recessive neurological disorder caused by mutations in the PHYH gene, is characterized by having impaired alpha-oxidation activity. Individuals with Refsum disease accumulate large stores of phytanic acid in their blood and tissues. This frequently leads to peripheral polyneuropathy, cerebellar ataxia, retinitis pigmentosa, anosmia, and hearing loss. Therefore, chronically high levels of phytanic acid can be neurotoxic. Phytanic acids neurotoxicity appears to lie in its ability to initiate astrocyte/neural cell death by activating the mitochondrial route of apoptosis. In particular, phytanic acid can induce the substantial generation of reactive oxygen species in isolated mitochondria as well as in intact cells. It also induces the release of cytochrome c from mitochondria.
A 20-carbon branched chain fatty acid, Phytanic acid is present in animal (primarily herbivores or omnivores) tissues where it may be derived from the chlorophyll in consumed plant material. Phytanic acid derives from the corresponding alcohol, phytol, and is ultimately oxidized into pristanic acid. In phytanic acid storage disease (Refsum disease) this lipid may comprise as much as 30\\% of the total fatty acids in plasma. These high levels in Refsum disease (a neurological disorder) are due to a phytanic acid alpha-hydroxylase deficiency.; A 20-carbon branched chain fatty acid. In phytanic acid storage disease (Refsum disease) this lipid may comprise as much as 30\\% of the total fatty acids of the plasma. This is due to a phytanic acid alpha-hydroxylase deficiency. [HMDB]

同义名列表

14 个代谢物同义名

3,7,11,15-Tetramethylhexadecoanoic acid; 3,7,11,15-Tetramethyl-hexadecanoic acid; 3,7,11,15-Tetramethyl hexadecanoic acid; 3,7,11,15-Tetramethylhexadecanoic acid; 3,7,11,15-Tetramethyl-hexadecansaeure; 3,7,11,15-Tetramethyl-hexadecanoate; 3,7,11,15-Tetramethylhexadecoanoate; 3,7,11,15-Tetramethyl hexadecanoate; 3,7,11,15-Tetramethylhexadecanoate; Phytanoic acid; Acid, phytanic; PHYTANIC ACID; Phytanoate; Phytanate



数据库引用编号

16 个数据库交叉引用编号

分类词条

相关代谢途径

Reactome(5)

BioCyc(0)

PlantCyc(0)

代谢反应

70 个相关的代谢反应过程信息。

Reactome(55)

BioCyc(0)

WikiPathways(0)

Plant Reactome(0)

INOH(0)

PlantCyc(0)

COVID-19 Disease Map(0)

PathBank(15)

PharmGKB(0)

7 个相关的物种来源信息

在这里通过桑基图来展示出与当前的这个代谢物在我们的BioDeep知识库中具有相关联信息的其他代谢物。在这里进行关联的信息来源主要有：

  • PubMed: 来源于PubMed文献库中的文献信息，我们通过自然语言数据挖掘得到的在同一篇文献中被同时提及的相关代谢物列表，这个列表按照代谢物同时出现的文献数量降序排序，取前10个代谢物作为相关研究中关联性很高的代谢物集合展示在桑基图中。
  • NCBI Taxonomy: 通过文献数据挖掘，得到的代谢物物种来源信息关联。这个关联信息同样按照出现的次数降序排序，取前10个代谢物作为高关联度的代谢物集合展示在桑吉图上。
  • Chemical Taxonomy: 在物质分类上处于同一个分类集合中的其他代谢物
  • Chemical Reaction: 在化学反应过程中，存在为当前代谢物相关联的生化反应过程中的反应底物或者反应产物的关联代谢物信息。

点击图上的相关代谢物的名称，可以跳转到相关代谢物的信息页面。



文献列表

  • Wentao Yang, Philipp Gutbrod, Katharina Gutbrod, Helga Peisker, Xiaoning Song, Anna-Lena Falz, Andreas J Meyer, Peter Dörmann. 2-Hydroxy-phytanoyl-CoA lyase (AtHPCL) is involved in phytol metabolism in Arabidopsis. The Plant journal : for cell and molecular biology. 2022 03; 109(5):1290-1304. doi: 10.1111/tpj.15632. [PMID: 34902195]
  • Maaike Blankestijn, Vincent W Bloks, Dicky Struik, Nicolette Huijkman, Niels Kloosterhuis, Justina C Wolters, Ronald J A Wanders, Frédéric M Vaz, Markus Islinger, Folkert Kuipers, Bart van de Sluis, Albert K Groen, Henkjan J Verkade, Johan W Jonker. Mice with a deficiency in Peroxisomal Membrane Protein 4 (PXMP4) display mild changes in hepatic lipid metabolism. Scientific reports. 2022 02; 12(1):2512. doi: 10.1038/s41598-022-06479-y. [PMID: 35169201]
  • Youssef Khalil, Sara Carrino, Fujun Lin, Anna Ferlin, Heena V Lad, Francesca Mazzacuva, Sara Falcone, Natalie Rivers, Gareth Banks, Danilo Concas, Carlos Aguilar, Andrew R Haynes, Andy Blease, Thomas Nicol, Raya Al-Shawi, Wendy Heywood, Paul Potter, Kevin Mills, Daniel P Gale, Peter T Clayton. Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation. International journal of molecular sciences. 2022 Jan; 23(2):. doi: 10.3390/ijms23020987. [PMID: 35055171]
  • Luz Díaz-Storani, Anaelle A Clary, Diego M Moreno, María Sol Ballari, Exequiel O J Porta, Andrea B J Bracca, Jonathan B Johnston, Guillermo R Labadie. Synthesis and interaction of terminal unsaturated chemical probes with Mycobacterium tuberculosis CYP124A1. Bioorganic & medicinal chemistry. 2021 08; 44(?):116304. doi: 10.1016/j.bmc.2021.116304. [PMID: 34289431]
  • Masahiro Okamura, Takahiro Ueno, Sho Tanaka, Yusuke Murata, Hiroki Kobayashi, Aoi Miyamoto, Masanori Abe, Noboru Fukuda. Increased expression of acyl-CoA oxidase 2 in the kidney with plasma phytanic acid and altered gut microbiota in spontaneously hypertensive rats. Hypertension research : official journal of the Japanese Society of Hypertension. 2021 Jun; 44(6):651-661. doi: 10.1038/s41440-020-00611-z. [PMID: 33504992]
  • Tomonori Nakanishi, Kazuhiro Kagamizono, Sayaka Yokoyama, Ryoji Suzuki, Hiroyuki Sakakibara, Kazuhiro Sugamoto, Laurie Erickson, Satoshi Kawahara. Dietary phytanic acid-induced changes in tissue fatty acid profiles in mice. The Journal of dairy research. 2020 Nov; 87(4):498-500. doi: 10.1017/s0022029920001089. [PMID: 33243312]
  • Eui Hyun Kim, Geon A Kim, Anukul Taweechaipaisankul, Muhammad Rosyid Ridlo, Seok Hee Lee, Kihae Ra, Curie Ahn, Byeong Chun Lee. Phytanic acid-derived peroxisomal lipid metabolism in porcine oocytes. Theriogenology. 2020 Nov; 157(?):276-285. doi: 10.1016/j.theriogenology.2020.07.007. [PMID: 32823023]
  • Tomonori Nakanishi, Kazuhiro Kagamizono, Sayaka Yokoyama, Ryoji Suzuki, Hiroyuki Sakakibara, Laurie Erickson, Satoshi Kawahara. Effects of dietary phytol on tissue accumulation of phytanic acid and pristanic acid and on the tissue lipid profiles in mice. Animal science journal = Nihon chikusan Gakkaiho. 2020 Jan; 91(1):e13424. doi: 10.1111/asj.13424. [PMID: 32618084]
  • Pammi Subhashini, Sampangi Jaya Krishna, Ganni Usha Rani, Nooguri Sushma Chander, Gummadi Maheshwar Reddy, Shaik Mohammad Naushad. Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders. Journal of biochemistry. 2019 Jan; 165(1):67-73. doi: 10.1093/jb/mvy085. [PMID: 30295825]
  • Ji-Yeong An, Huei-Fen Jheng, Hiroyuki Nagai, Kohei Sanada, Haruya Takahashi, Mari Iwase, Natsumi Watanabe, Young-Il Kim, Aki Teraminami, Nobuyuki Takahashi, Rieko Nakata, Hiroyasu Inoue, Shigeto Seno, Hideo Mastuda, Teruo Kawada, Tsuyoshi Goto. A Phytol-Enriched Diet Activates PPAR-α in the Liver and Brown Adipose Tissue to Ameliorate Obesity-Induced Metabolic Abnormalities. Molecular nutrition & food research. 2018 03; 62(6):e1700688. doi: 10.1002/mnfr.201700688. [PMID: 29377597]
  • Avery L McIntosh, Stephen M Storey, Huan Huang, Ann B Kier, Friedhelm Schroeder. Sex-dependent impact of Scp-2/Scp-x gene ablation on hepatic phytol metabolism. Archives of biochemistry and biophysics. 2017 12; 635(?):17-26. doi: 10.1016/j.abb.2017.10.011. [PMID: 29051070]
  • Shaista Chaudhary, Suhel Parvez. Phytanic acid induced neurological alterations in rat brain synaptosomes and its attenuation by melatonin. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie. 2017 Nov; 95(?):37-46. doi: 10.1016/j.biopha.2017.07.156. [PMID: 28826095]
  • Serena Mezzar, Evelyn De Schryver, Stanny Asselberghs, Els Meyhi, Petruta L Morvay, Myriam Baes, Paul P Van Veldhoven. Phytol-induced pathology in 2-hydroxyacyl-CoA lyase (HACL1) deficient mice. Evidence for a second non-HACL1-related lyase. Biochimica et biophysica acta. Molecular and cell biology of lipids. 2017 Sep; 1862(9):972-990. doi: 10.1016/j.bbalip.2017.06.004. [PMID: 28629946]
  • Katharina Herzog, Henk van Lenthe, Ronald J A Wanders, Frédéric M Vaz, Hans R Waterham, Sacha Ferdinandusse. Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders. Molecular genetics and metabolism. 2017 07; 121(3):279-282. doi: 10.1016/j.ymgme.2017.05.003. [PMID: 28566232]
  • Samia Hadj Ahmed, Nadia Koubaa, Wafa Kharroubi, Amira Zarrouk, Amira Mnari, Fethi Batbout, Habib Gamra, Sonia Hammami, Gérard Lizard, Mohamed Hammami. Identification of long and very long chain fatty acids, plasmalogen-C16:0 and phytanic acid as new lipid biomarkers in Tunisian coronary artery disease patients. Prostaglandins & other lipid mediators. 2017 07; 131(?):49-58. doi: 10.1016/j.prostaglandins.2017.08.001. [PMID: 28789919]
  • Stephen M Storey, Huan Huang, Avery L McIntosh, Gregory G Martin, Ann B Kier, Friedhelm Schroeder. Impact of Fabp1/Scp-2/Scp-x gene ablation (TKO) on hepatic phytol metabolism in mice. Journal of lipid research. 2017 06; 58(6):1153-1165. doi: 10.1194/jlr.m075457. [PMID: 28411199]
  • Aoi Miyamoto, Takahiko Aoyama, Masahiro Okamura, Noboru Fukuda, Takahiro Ueno, Masanori Abe, Yoshiaki Matsumoto. Development of a Method for Measuring Phytanic Acid as a Lifestyle-related Disease Biomarker in Rat Serum Using Ultra-fast Liquid Chromatography-Ultraviolet Spectrophotometry Combined with a Modified 2-Nitrophenylhydrazine Derivatization Method. Analytical sciences : the international journal of the Japan Society for Analytical Chemistry. 2017; 33(3):365-368. doi: 10.2116/analsci.33.365. [PMID: 28302979]
  • Stephanie Krauß, Simon Hammann, Walter Vetter. Phytyl Fatty Acid Esters in the Pulp of Bell Pepper (Capsicum annuum). Journal of agricultural and food chemistry. 2016 Aug; 64(32):6306-11. doi: 10.1021/acs.jafc.6b02645. [PMID: 27458658]
  • Michela Semeraro, Cristiano Rizzo, Sara Boenzi, Marco Cappa, Enrico Bertini, Giacomo Antonetti, Carlo Dionisi-Vici. A new multiplex method for the diagnosis of peroxisomal disorders allowing simultaneous determination of plasma very-long-chain fatty acids, phytanic, pristanic, docosahexaenoic and bile acids by high-performance liquid chromatography-atmospheric pressure chemical ionization-tandem mass spectrometry. Clinica chimica acta; international journal of clinical chemistry. 2016 Jul; 458(?):159-64. doi: 10.1016/j.cca.2016.05.009. [PMID: 27189059]
  • Gursev S Dhaunsi, Mayra Alsaeid, Saghir Akhtar. Phytanic acid activates NADPH oxidase through transactivation of epidermal growth factor receptor in vascular smooth muscle cells. Lipids in health and disease. 2016 Jun; 15(?):105. doi: 10.1186/s12944-016-0273-9. [PMID: 27287039]
  • Masatoshi Matsunami, Nobuyuki Shimozawa, Akinari Fukuda, Tadayuki Kumagai, Masaya Kubota, Pin Fee Chong, Mureo Kasahara. Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease. Pediatrics. 2016 06; 137(6):. doi: 10.1542/peds.2015-3102. [PMID: 27221287]
  • Arthur Sorlin, Gilbert Briand, David Cheillan, Arnaud Wiedemann, Bettina Montaut-Verient, Emmanuelle Schmitt, François Feillet. Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 Deficiency. Neuropediatrics. 2016 Jun; 47(3):179-81. doi: 10.1055/s-0036-1578798. [PMID: 26947510]
  • Yachana Kataria, Margaret Wright, Ryan J Deaton, Erika Enk Rueter, Benjamin A Rybicki, Ann B Moser, Vijayalakshmi Ananthanrayanan, Peter H Gann. Dietary influences on tissue concentrations of phytanic acid and AMACR expression in the benign human prostate. The Prostate. 2015 Feb; 75(2):200-10. doi: 10.1002/pros.22905. [PMID: 25307752]
  • Margaret E Wright, Demetrius Albanes, Ann B Moser, Stephanie J Weinstein, Kirk Snyder, Satu Männistö, Peter H Gann. Serum phytanic and pristanic acid levels and prostate cancer risk in Finnish smokers. Cancer medicine. 2014 Dec; 3(6):1562-9. doi: 10.1002/cam4.319. [PMID: 25132681]
  • Nageshwar R Yepuri, Stephen A Holt, Greta Moraes, Peter J Holden, Khondker R Hossain, Stella M Valenzuela, Michael James, Tamim A Darwish. Stereoselective synthesis of perdeuterated phytanic acid, its phospholipid derivatives and their formation into lipid model membranes for neutron reflectivity studies. Chemistry and physics of lipids. 2014 Oct; 183(?):22-33. doi: 10.1016/j.chemphyslip.2014.04.004. [PMID: 24794716]
  • Federico Buonanno, Andrea Anesi, Graziano Guella, Santosh Kumar, Daizy Bharti, Antonietta La Terza, Luana Quassinti, Massimo Bramucci, Claudio Ortenzi. Chemical offense by means of toxicysts in the freshwater ciliate, Coleps hirtus. The Journal of eukaryotic microbiology. 2014 May; 61(3):293-304. doi: 10.1111/jeu.12106. [PMID: 24512001]
  • Tõnu Püssa. Toxicological issues associated with production and processing of meat. Meat science. 2013 Dec; 95(4):844-53. doi: 10.1016/j.meatsci.2013.04.032. [PMID: 23660174]
  • Ann B Moser, Jody Hey, Patricia K Dranchak, Mazen W Karaman, Junsong Zhao, Laura A Cox, Oliver A Ryder, Joseph G Hacia. Diverse captive non-human primates with phytanic acid-deficient diets rich in plant products have substantial phytanic acid levels in their red blood cells. Lipids in health and disease. 2013 Feb; 12(?):10. doi: 10.1186/1476-511x-12-10. [PMID: 23379307]
  • Estela Natacha Brandt Busanello, Ângela Zanatta, Anelise Miotti Tonin, Carolina Maso Viegas, Carmen Regla Vargas, Guilhian Leipnitz, César Augusto João Ribeiro, Moacir Wajner. Marked inhibition of Na+, K(+)- ATPase activity and the respiratory chain by phytanic acid in cerebellum from young rats: possible underlying mechanisms of cerebellar ataxia in Refsum disease. Journal of bioenergetics and biomembranes. 2013 Feb; 45(1-2):137-44. doi: 10.1007/s10863-012-9491-7. [PMID: 23151916]
  • Milena Povolo, Valeria Pelizzola, Luigi Passolungo, Elisa Biazzi, Aldo Tava, Giovanna Contarini. Characterization of two Agrostis-Festuca alpine pastures and their influence on cheese composition. Journal of agricultural and food chemistry. 2013 Jan; 61(2):447-55. doi: 10.1021/jf304756w. [PMID: 23259614]
  • Mohamed M Elmazar, Hanan S El-Abhar, Mona F Schaalan, Nahla A Farag. Phytol/Phytanic acid and insulin resistance: potential role of phytanic acid proven by docking simulation and modulation of biochemical alterations. PloS one. 2013; 8(1):e45638. doi: 10.1371/journal.pone.0045638. [PMID: 23300941]
  • Hugh J McMillan, Thea Worthylake, Jeremy Schwartzentruber, Chloe C Gottlieb, Sarah E Lawrence, Alex Mackenzie, Chandree L Beaulieu, Petra A W Mooyer, Ronald J A Wanders, Jacek Majewski, Dennis E Bulman, Michael T Geraghty, Sacha Ferdinandusse, Kym M Boycott. Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. Orphanet journal of rare diseases. 2012 Nov; 7(?):90. doi: 10.1186/1750-1172-7-90. [PMID: 23181892]
  • Mateus Grings, Anelise Miotti Tonin, Lisiane Aurélio Knebel, Angela Zanatta, Alana Pimentel Moura, Carlos Severo Dutra Filho, Moacir Wajner, Guilhian Leipnitz. Phytanic acid disturbs mitochondrial homeostasis in heart of young rats: a possible pathomechanism of cardiomyopathy in Refsum disease. Molecular and cellular biochemistry. 2012 Jul; 366(1-2):335-43. doi: 10.1007/s11010-012-1311-1. [PMID: 22527938]
  • Alfried Kohlschütter, René Santer, Zoltan Lukacs, Christiane Altenburg, Markus J Kemper, Klaus Rüther. A child with night blindness: preventing serious symptoms of Refsum disease. Journal of child neurology. 2012 May; 27(5):654-6. doi: 10.1177/0883073811424799. [PMID: 22156782]
  • I S Mamedov, Iu A Smolina, V S Sukhorukov, P V Novikov. [The diagnostic of peroxisomic diseases in children]. Klinicheskaia laboratornaia diagnostika. 2012 Mar; ?(3):16-8. doi: NULL. [PMID: 22712285]
  • D Zolotov, S Wagner, K Kalb, J Bunia, A Heibges, R Klingel. Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis. Journal of clinical apheresis. 2012; 27(2):99-105. doi: 10.1002/jca.21200. [PMID: 22267052]
  • Wagner L Araújo, Kimitsune Ishizaki, Adriano Nunes-Nesi, Takayuki Tohge, Tony R Larson, Ina Krahnert, Ilse Balbo, Sandra Witt, Peter Dörmann, Ian A Graham, Christopher J Leaver, Alisdair R Fernie. Analysis of a range of catabolic mutants provides evidence that phytanoyl-coenzyme A does not act as a substrate of the electron-transfer flavoprotein/electron-transfer flavoprotein:ubiquinone oxidoreductase complex in Arabidopsis during dark-induced senescence. Plant physiology. 2011 Sep; 157(1):55-69. doi: 10.1104/pp.111.182188. [PMID: 21788362]
  • Nicol Kruska, Georg Reiser. Phytanic acid and pristanic acid, branched-chain fatty acids associated with Refsum disease and other inherited peroxisomal disorders, mediate intracellular Ca2+ signaling through activation of free fatty acid receptor GPR40. Neurobiology of disease. 2011 Aug; 43(2):465-72. doi: 10.1016/j.nbd.2011.04.020. [PMID: 21570468]
  • Louise B Werner, Lars I Hellgren, Marianne Raff, Søren K Jensen, Rikke A Petersen, Tue Drachmann, Tine Tholstrup. Effect of dairy fat on plasma phytanic acid in healthy volunteers - a randomized controlled study. Lipids in health and disease. 2011 Jun; 10(?):95. doi: 10.1186/1476-511x-10-95. [PMID: 21663648]
  • Nimalie J Perera, Barry Lewis, Huy Tran, Michael Fietz, David R Sullivan. Refsum's Disease-Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder. Journal of obesity. 2011; 2011(?):. doi: 10.1155/2011/482021. [PMID: 20871815]
  • Pedro Brites, Ana Sofia Ferreira, Tiago Ferreira da Silva, Vera F Sousa, Ana R Malheiro, Marinus Duran, Hans R Waterham, Myriam Baes, Ronald J A Wanders. Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice. PloS one. 2011; 6(12):e28539. doi: 10.1371/journal.pone.0028539. [PMID: 22163031]
  • Wafaa Ghoneim, Hala T El-Bassyouni, Soheir A Abdel Maksoud. Peroxisomal biogenesis disorder biomarkers. Clinical laboratory. 2011; 57(7-8):469-80. doi: . [PMID: 21888010]
  • Emily Helen Smith, Dimitar K Gavrilov, Devin Oglesbee, William D Freeman, Michael W Vavra, Dietrich Matern, Silvia Tortorelli. An adult onset case of alpha-methyl-acyl-CoA racemase deficiency. Journal of inherited metabolic disease. 2010 Dec; 33 Suppl 3(?):S349-53. doi: 10.1007/s10545-010-9183-6. [PMID: 20821052]
  • Klaus Rüether, Eleanor Baldwin, Minne Casteels, Michael D Feher, Morten Horn, Susan Kuranoff, Bart P Leroy, Ronald J Wanders, Anthony S Wierzbicki. Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy. Survey of ophthalmology. 2010 Nov; 55(6):531-8. doi: 10.1016/j.survophthal.2010.03.007. [PMID: 20850855]
  • Paul A Watkins, Ann B Moser, Cicely B Toomer, Steven J Steinberg, Hugo W Moser, Mazen W Karaman, Krishna Ramaswamy, Kimberly D Siegmund, D Rick Lee, John J Ely, Oliver A Ryder, Joseph G Hacia. Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions. BMC physiology. 2010 Oct; 10(?):19. doi: 10.1186/1472-6793-10-19. [PMID: 20932325]
  • Eleanor J Baldwin, F Brian Gibberd, Claire Harley, Margaret C Sidey, Michael D Feher, Anthony S Wierzbicki. The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease. Journal of neurology, neurosurgery, and psychiatry. 2010 Sep; 81(9):954-7. doi: 10.1136/jnnp.2008.161059. [PMID: 20547622]
  • Guilhian Leipnitz, Alexandre U Amaral, Angela Zanatta, Bianca Seminotti, Carolina G Fernandes, Lisiane A Knebel, Carmen R Vargas, Moacir Wajner. Neurochemical evidence that phytanic acid induces oxidative damage and reduces the antioxidant defenses in cerebellum and cerebral cortex of rats. Life sciences. 2010 Aug; 87(9-10):275-80. doi: 10.1016/j.lfs.2010.06.015. [PMID: 20619275]
  • Alison J Price, Naomi E Allen, Paul N Appleby, Francesca L Crowe, Mazda Jenab, Sabina Rinaldi, Nadia Slimani, Rudolf Kaaks, Sabine Rohrmann, Heiner Boeing, Tobias Pischon, Vassiliki Benetou, Androniki Naska, Antonia Trichopoulou, Domenico Palli, Sabina Sieri, Rosario Tumino, Paolo Vineis, H Bas Bueno-de-Mesquita, Ignacio Donate, Carlos A González, Maria-José Sánchez, Maria-Dolores Chirlaque, Eva Ardanaz, Nerea Larrañaga, Kay-Tee Khaw, Sheila Rodwell, Valentina Gallo, Dominique S Michaud, Elio Riboli, Timothy J Key. Plasma phytanic acid concentration and risk of prostate cancer: results from the European Prospective Investigation into Cancer and Nutrition. The American journal of clinical nutrition. 2010 Jun; 91(6):1769-76. doi: 10.3945/ajcn.2009.28831. [PMID: 20427733]
  • Manisha Sathe, Mariliza Derveni, Marjorie Allen, David C Cullen. Use of polystyrene-supported 2-isobutoxy-1-isobutoxycarbonyl-1,2-dihydroquinoline for the preparation of a hapten-protein conjugate for antibody development. Bioorganic & medicinal chemistry letters. 2010 Mar; 20(5):1792-5. doi: 10.1016/j.bmcl.2009.12.078. [PMID: 20129781]
  • Lars I Hellgren. Phytanic acid--an overlooked bioactive fatty acid in dairy fat?. Annals of the New York Academy of Sciences. 2010 Mar; 1190(?):42-9. doi: 10.1111/j.1749-6632.2009.05254.x. [PMID: 20388135]
  • Jonathan B Johnston, Petrea M Kells, Larissa M Podust, Paul R Ortiz de Montellano. Biochemical and structural characterization of CYP124: a methyl-branched lipid omega-hydroxylase from Mycobacterium tuberculosis. Proceedings of the National Academy of Sciences of the United States of America. 2009 Dec; 106(49):20687-92. doi: 10.1073/pnas.0907398106. [PMID: 19933331]
  • John T Mackie, Barbara P Atshaves, H Ross Payne, Avery L McIntosh, Friedhelm Schroeder, Ann B Kier. Phytol-induced hepatotoxicity in mice. Toxicologic pathology. 2009 Feb; 37(2):201-8. doi: 10.1177/0192623308330789. [PMID: 19188468]
  • S J Steinberg, A Snowden, N E Braverman, L Chen, P A Watkins, P T Clayton, K D R Setchell, J E Heubi, G V Raymond, A B Moser, H W Moser. A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. Journal of inherited metabolic disease. 2009 Feb; 32(1):109-19. doi: 10.1007/s10545-008-0969-8. [PMID: 19127411]
  • Tomoyuki Fukasawa, Koichiro Murashima, Tomoko Nemoto, Ichiro Matsumoto, Jinichiro Koga, Hidetoshi Kubota, Minoru Kanegae. Identification of marker genes for lipid-lowering effect of a short-chain fructooligosaccharide by DNA microarray analysis. Journal of dietary supplements. 2009; 6(3):254-62. doi: 10.1080/19390210903070822. [PMID: 22435477]
  • Marina Moraitou, Evangelia Dimitriou, Dimitrios Zafeiriou, Constantina Reppa, Theodoros Marinakis, Jasmin Sarafidou, Helen Michelakakis. Plasmalogen levels in Gaucher disease. Blood cells, molecules & diseases. 2008 Sep; 41(2):196-9. doi: 10.1016/j.bcmd.2008.03.007. [PMID: 18501647]
  • Osama Y Al-Dirbashi, Tomofumi Santa, Mohamed S Rashed, Zuhair Al-Hassnan, Nobuyuki Shimozawa, Aziza Chedrawi, Minnie Jacob, Manhal Al-Mokhadab. Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders. Journal of lipid research. 2008 Aug; 49(8):1855-62. doi: 10.1194/jlr.d800019-jlr200. [PMID: 18441019]
  • Josef Finsterer, Günther Regelsberger, Till Voigtländer. Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa. Journal of the neurological sciences. 2008 Mar; 266(1-2):182-6. doi: 10.1016/j.jns.2007.09.005. [PMID: 17905308]
  • Naomi E Allen, Philip B Grace, Annette Ginn, Ruth C Travis, Andrew W Roddam, Paul N Appleby, Timothy Key. Phytanic acid: measurement of plasma concentrations by gas-liquid chromatography-mass spectrometry analysis and associations with diet and other plasma fatty acids. The British journal of nutrition. 2008 Mar; 99(3):653-9. doi: 10.1017/s000711450782407x. [PMID: 17868488]
  • J C Komen, F Distelmaier, W J H Koopman, R J A Wanders, J Smeitink, P H M G Willems. Phytanic acid impairs mitochondrial respiration through protonophoric action. Cellular and molecular life sciences : CMLS. 2007 Dec; 64(24):3271-81. doi: 10.1007/s00018-007-7357-7. [PMID: 17968498]
  • Barbara P Atshaves, Avery L McIntosh, Danilo Landrock, H Ross Payne, John T Mackie, Nobuyo Maeda, Judith Ball, Friedhelm Schroeder, Ann B Kier. Effect of SCP-x gene ablation on branched-chain fatty acid metabolism. American journal of physiology. Gastrointestinal and liver physiology. 2007 Mar; 292(3):G939-51. doi: 10.1152/ajpgi.00308.2006. [PMID: 17068117]
  • Francesc Villarroya, Roser Iglesias, Marta Giralt. PPARs in the Control of Uncoupling Proteins Gene Expression. PPAR research. 2007; 2007(?):74364. doi: 10.1155/2007/74364. [PMID: 17389766]
  • Xiao-Han Tang, Moo-Jin Suh, Rong Li, Lorraine J Gudas. Cell proliferation inhibition and alterations in retinol esterification induced by phytanic acid and docosahexaenoic acid. Journal of lipid research. 2007 Jan; 48(1):165-76. doi: 10.1194/jlr.m600419-jlr200. [PMID: 17068359]
  • Christophe Verny, Adriana Prundean, Guillaume Nicolas, Vivien Pautot, Dominique Maugin, Thierry Levade, Dominique Bonneau, Frederic Dubas. Refsum's disease may mimic familial Guillain Barre syndrome. Neuromuscular disorders : NMD. 2006 Nov; 16(11):805-8. doi: 10.1016/j.nmd.2006.07.001. [PMID: 16934464]
  • J C Komen, R J A Wanders. Identification of the cytochrome P450 enzymes responsible for the omega-hydroxylation of phytanic acid. FEBS letters. 2006 Jul; 580(16):3794-8. doi: 10.1016/j.febslet.2006.05.069. [PMID: 16782090]
  • Peter Schönfeld, Stefan Kahlert, Georg Reiser. A study of the cytotoxicity of branched-chain phytanic acid with mitochondria and rat brain astrocytes. Experimental gerontology. 2006 Jul; 41(7):688-96. doi: 10.1016/j.exger.2006.02.013. [PMID: 16616447]
  • Georg Reiser, Peter Schönfeld, Stefan Kahlert. Mechanism of toxicity of the branched-chain fatty acid phytanic acid, a marker of Refsum disease, in astrocytes involves mitochondrial impairment. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. 2006 Apr; 24(2-3):113-22. doi: 10.1016/j.ijdevneu.2005.11.002. [PMID: 16386870]
  • Toru Hashimoto, Naoto Shimizu, Toshinori Kimura, Yoko Takahashi, Takashi Ide. Polyunsaturated fats attenuate the dietary phytol-induced increase in hepatic fatty acid oxidation in mice. The Journal of nutrition. 2006 Apr; 136(4):882-6. doi: 10.1093/jn/136.4.882. [PMID: 16549445]
  • M Casteels. [alpha-Oxidation of 3-methyl-branched fatty acids: unraveling of a pathway]. Verhandelingen - Koninklijke Academie voor Geneeskunde van Belgie. 2006; 68(3):199-221; discussion 221. doi: . [PMID: 16796018]
  • Tsuyoshi Goto, Nobuyuki Takahashi, Sota Kato, Kahori Egawa, Shogo Ebisu, Tatsuya Moriyama, Tohru Fushiki, Teruo Kawada. Phytol directly activates peroxisome proliferator-activated receptor alpha (PPARalpha) and regulates gene expression involved in lipid metabolism in PPARalpha-expressing HepG2 hepatocytes. Biochemical and biophysical research communications. 2005 Nov; 337(2):440-5. doi: 10.1016/j.bbrc.2005.09.077. [PMID: 16202384]
  • Patrick C Walsh. Serum levels of phytanic acid are associated with prostate cancer risk. The Journal of urology. 2005 Nov; 174(5):1824. doi: NULL. [PMID: 16217297]
  • K Rüther. [Adult Refsum disease. A retinal dystrophy with therapeutic options]. Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft. 2005 Aug; 102(8):772-7. doi: 10.1007/s00347-005-1239-x. [PMID: 15990985]
  • Jianfeng Xu, Todd Thornburg, Aubrey R Turner, Mara Vitolins, Doug Case, John Shadle, Lisa Hinson, Jielin Sun, Wennuan Liu, Baoli Chang, Tamara S Adams, S Lilly Zheng, Frank M Torti. Serum levels of phytanic acid are associated with prostate cancer risk. The Prostate. 2005 May; 63(3):209-14. doi: 10.1002/pros.20233. [PMID: 15712232]
  • Veerle Foulon, Mieke Sniekers, Els Huysmans, Stanny Asselberghs, Vincent Mahieu, Guy P Mannaerts, Paul P Van Veldhoven, Minne Casteels. Breakdown of 2-hydroxylated straight chain fatty acids via peroxisomal 2-hydroxyphytanoyl-CoA lyase: a revised pathway for the alpha-oxidation of straight chain fatty acids. The Journal of biological chemistry. 2005 Mar; 280(11):9802-12. doi: 10.1074/jbc.m413362200. [PMID: 15644336]
  • Florian Leiber, Michael Kreuzer, Daniel Nigg, Hans-Rudolf Wettstein, Martin Richard Leo Scheeder. A study on the causes for the elevated n-3 fatty acids in cows' milk of alpine origin. Lipids. 2005 Feb; 40(2):191-202. doi: 10.1007/s11745-005-1375-3. [PMID: 15884768]
  • L Van Maldergem, A B Moser, M-F Vincent, D Roland, R Reding, J-B Otte, R J Wanders, E Sokal. Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. Journal of inherited metabolic disease. 2005; 28(4):593-600. doi: 10.1007/s10545-005-0593-9. [PMID: 15902563]
  • M M A Elmazar, H Nau. Potentiation of the teratogenic effects induced by coadministration of retinoic acid or phytanic acid/phytol with synthetic retinoid receptor ligands. Archives of toxicology. 2004 Nov; 78(11):660-8. doi: 10.1007/s00204-004-0586-8. [PMID: 15558240]
  • Gerold Mönnig, Johannes Wiekowski, Paulus Kirchhof, Jörg Stypmann, Gabriele Plenz, Larissa Fabritz, Hans-Jürgen Bruns, Lars Eckardt, Gerd Assmann, Wilhelm Haverkamp, Günter Breithardt, Udo Seedorf. Phytanic acid accumulation is associated with conduction delay and sudden cardiac death in sterol carrier protein-2/sterol carrier protein-x deficient mice. Journal of cardiovascular electrophysiology. 2004 Nov; 15(11):1310-6. doi: 10.1046/j.1540-8167.2004.03679.x. [PMID: 15574183]
  • C E Clarke, S Alger, M A Preece, M A Burdon, S Chavda, S Denis, S Ferdinandusse, R J A Wanders. Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency. Neurology. 2004 Jul; 63(1):188-9. doi: 10.1212/01.wnl.0000132841.81250.b7. [PMID: 15249642]
  • J C Komen, M Duran, R J A Wanders. Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease. Journal of lipid research. 2004 Jul; 45(7):1341-6. doi: 10.1194/jlr.m400064-jlr200. [PMID: 15102880]
  • Gerbert A Jansen, Hans R Waterham, Ronald J A Wanders. Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Human mutation. 2004 Mar; 23(3):209-18. doi: 10.1002/humu.10315. [PMID: 14974078]
  • David W Johnson, Minh-Uyen Trinh, Tomoyuki Oe. Measurement of plasma pristanic, phytanic and very long chain fatty acids by liquid chromatography-electrospray tandem mass spectrometry for the diagnosis of peroxisomal disorders. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences. 2003 Dec; 798(1):159-62. doi: 10.1016/j.jchromb.2003.09.014. [PMID: 14630371]
  • Veerle Foulon, Stanny Asselberghs, Wendy Geens, Guy P Mannaerts, Minne Casteels, Paul P Van Veldhoven. Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease?. Journal of lipid research. 2003 Dec; 44(12):2349-55. doi: 10.1194/jlr.m300230-jlr200. [PMID: 12923223]
  • Yasuhiko Takemoto, Yasuyuki Suzuki, Ryoko Horibe, Nobuyuki Shimozawa, Ronald J A Wanders, Naomi Kondo. Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders. Brain & development. 2003 Oct; 25(7):481-7. doi: 10.1016/s0387-7604(03)00033-0. [PMID: 13129591]
  • Mridul Mukherji, Christopher J Schofield, Anthony S Wierzbicki, Gerbert A Jansen, Ronald J A Wanders, Matthew D Lloyd. The chemical biology of branched-chain lipid metabolism. Progress in lipid research. 2003 Sep; 42(5):359-76. doi: 10.1016/s0163-7827(03)00016-x. [PMID: 12814641]
  • Barbara P Atshaves, Stephen M Storey, Friedhelm Schroeder. Sterol carrier protein-2/sterol carrier protein-x expression differentially alters fatty acid metabolism in L cell fibroblasts. Journal of lipid research. 2003 Sep; 44(9):1751-62. doi: 10.1194/jlr.m300141-jlr200. [PMID: 12810824]
  • R Straube, D Gäckler, A Thiele, L Muselmann, H Kingreen, R Klingel. Membrane differential filtration is safe and effective for the long-term treatment of Refsum syndrome--an update of treatment modalities and pathophysiological cognition. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis. 2003 Aug; 29(1):85-91. doi: 10.1016/s1473-0502(03)00102-2. [PMID: 12877898]
  • Anthony S Wierzbicki, Phillip D Mayne, Matthew D Lloyd, David Burston, Guam Mei, Margaret C Sidey, Michael D Feher, F Brian Gibberd. Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease. Journal of lipid research. 2003 Aug; 44(8):1481-8. doi: 10.1194/jlr.m300121-jlr200. [PMID: 12700346]
  • A Schlüter, P Yubero, R Iglesias, M Giralt, F Villarroya. The chlorophyll-derived metabolite phytanic acid induces white adipocyte differentiation. International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity. 2002 Sep; 26(9):1277-80. doi: 10.1038/sj.ijo.0802068. [PMID: 12187408]
  • Barbara P Atshaves, Stephen M Storey, Anca Petrescu, Cynthia C Greenberg, Olga I Lyuksyutova, Roger Smith, Friedhelm Schroeder. Expression of fatty acid binding proteins inhibits lipid accumulation and alters toxicity in L cell fibroblasts. American journal of physiology. Cell physiology. 2002 Sep; 283(3):C688-703. doi: 10.1152/ajpcell.00586.2001. [PMID: 12176726]
  • Mridul Mukherji, Nadia J Kershaw, Christopher J Schofield, Anthony S Wierzbicki, Matthew D Lloyd. Utilization of sterol carrier protein-2 by phytanoyl-CoA 2-hydroxylase in the peroxisomal alpha oxidation of phytanic acid. Chemistry & biology. 2002 May; 9(5):597-605. doi: 10.1016/s1074-5521(02)00139-4. [PMID: 12031666]
  • Manuel Heim, James Johnson, Franziska Boess, Igor Bendik, Peter Weber, Willi Hunziker, Beat Fluhmann. Phytanic acid, a natural peroxisome proliferator-activated receptor (PPAR) agonist, regulates glucose metabolism in rat primary hepatocytes. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2002 May; 16(7):718-20. doi: 10.1096/fj.01-0816fje. [PMID: 11923221]
  • Thomas Arnhold, Mohamed M A Elmazar, Heinz Nau. Prevention of vitamin A teratogenesis by phytol or phytanic acid results from reduced metabolism of retinol to the teratogenic metabolite, all-trans-retinoic acid. Toxicological sciences : an official journal of the Society of Toxicology. 2002 Apr; 66(2):274-82. doi: 10.1093/toxsci/66.2.274. [PMID: 11896294]
  • Anthony S Wierzbicki, Matthew D Lloyd, Christopher J Schofield, Michael D Feher, F Brian Gibberd. Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. Journal of neurochemistry. 2002 Mar; 80(5):727-35. doi: 10.1046/j.0022-3042.2002.00766.x. [PMID: 11948235]
  • S Ferdinandusse, H Rusch, A E M van Lint, G Dacremont, R J A Wanders, P Vreken. Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders. Journal of lipid research. 2002 Mar; 43(3):438-44. doi: 10.1016/s0022-2275(20)30150-4. [PMID: 11893780]
  • Agatha Schlüter, Maria José Barberá, Roser Iglesias, Marta Giralt, Francesc Villarroya. Phytanic acid, a novel activator of uncoupling protein-1 gene transcription and brown adipocyte differentiation. The Biochemical journal. 2002 Feb; 362(Pt 1):61-9. doi: 10.1042/0264-6021:3620061. [PMID: 11829740]
  • S P Young, A W Johnson, D P Muller. Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease. Clinical science (London, England : 1979). 2001 Dec; 101(6):697-705. doi: NULL. [PMID: 11724659]
  • R J Wanders, G A Jansen, O H Skjeldal. Refsum disease, peroxisomes and phytanic acid oxidation: a review. Journal of neuropathology and experimental neurology. 2001 Nov; 60(11):1021-31. doi: 10.1093/jnen/60.11.1021. [PMID: 11706932]
  • N M Verhoeven, C Jakobs. Human metabolism of phytanic acid and pristanic acid. Progress in lipid research. 2001 Nov; 40(6):453-66. doi: 10.1016/s0163-7827(01)00011-x. [PMID: 11591435]
  • A J Wills, N J Manning, M M Reilly. Refsum's disease. QJM : monthly journal of the Association of Physicians. 2001 Aug; 94(8):403-6. doi: 10.1093/qjmed/94.8.403. [PMID: 11493716]