3D,7D,11D-Phytanic acid (BioDeep_00000871729)
Main id: BioDeep_00000019509
human metabolite Endogenous
代谢物信息卡片
化学式: C20H40O2 (312.302814)
中文名称:
谱图信息:
最多检出来源 () 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)/t17-,18-,19-/m1/s1
描述信息
3D,7D,11D-Phytanic acid is an isomer of Phytanic acid, an unusual 20-carbon branched-chain fatty acid; Phytanic acid accumulates in blood and tissues of patients with Refsum disease (RD, an inborn error of lipid metabolism inherited as an autosomal recessive trait (OMIM 266500)), and is a reliable identifier of RD from a large number of other neurological disorders. Phytanic acid also accumulates in a number of other disorders with a very different clinical course: disorders of peroxisome biogenesis (Zellweger syndrome (OMIM 214100), neonatal adrenoleukodystrophy (OMIM 202370), infantile Refsum disease (OMIM 266510)) and rhizomelic chondrodysplasia punctata, type 1 (OMIM 215100). Phytanic acid is a 3-methyl fatty acid that cannot be beta-oxidized directly, and first undergoes an alpha-oxidation a reaction catalyzed by the enzyme phytanoyl-CoA hydroxylase, which is deficient in RD, the only true disorder of phytanic acid alpha-oxidation. (The Metabolic and Molecular Bases of Inherited Disease).
Constituent of butter
同义名列表
14 个代谢物同义名
3,7,11,15-Tetramethyl-[3R-(3R*,7R*,11R*)]-hexadecanoic acid; 3,7,11,15-Tetramethyl-[3R-(3R*,7R*,11R*)]-hexadecanoate; ((3R,7R,11R)-)3,7,11,15-Tetramethylhexadecanoic acid; (3R,7R,11R)-3,7,11,15-tetramethylhexadecanoic acid; ((3R,7R,11R)-)3,7,11,15-Tetramethylhexadecanoate; 3,7,11,15-Tetramethyl-D,D,D-hexadecanoic acid; 3,7,11,15-Tetramethyl-D,D,D-hexadecanoate; (3R,7R,11R)-1-Phytanoic acid; (3R,7R,11R)-1-Phytanoate; 3D,7D,11D-Phytanic acid; D,D,D-Phytanic acid; 3D,7D,11D-Phytanate; D,D,D-Phytanate; Phytanoic acid
数据库引用编号
6 个数据库交叉引用编号
- ChEBI: CHEBI:172542
- PubChem: 10380830
- HMDB: HMDB0000417
- foodb: FDB013514
- chemspider: 8556273
- CAS: 18654-64-3
分类词条
相关代谢途径
Reactome(0)
BioCyc(0)
PlantCyc(0)
代谢反应
0 个相关的代谢反应过程信息。
Reactome(0)
BioCyc(0)
WikiPathways(0)
Plant Reactome(0)
INOH(0)
PlantCyc(0)
COVID-19 Disease Map(0)
PathBank(0)
PharmGKB(0)
1 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
- 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] - Bunichiro Ashibe, Yu Nakajima, Yuka Fukui, Kiyoto Motojima. PPARα as a Transcriptional Regulator for Detoxification of Plant Diet-Derived Unfavorable Compounds.
PPAR research.
2012; 2012(?):814945. doi:
10.1155/2012/814945
. [PMID: 22577367] - 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] - Jianqiu Kou, Gabor G Kovacs, Romana Höftberger, Willem Kulik, Alexander Brodde, Sonja Forss-Petter, Selma Hönigschnabl, Andreas Gleiss, Britta Brügger, Ronald Wanders, Wilhelm Just, Herbert Budka, Susanne Jungwirth, Peter Fischer, Johannes Berger. Peroxisomal alterations in Alzheimer's disease.
Acta neuropathologica.
2011 Sep; 122(3):271-83. doi:
10.1007/s00401-011-0836-9
. [PMID: 21594711] - 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] - Gisella Terre'Blanche, Mietha M van der Walt, Jacobus J Bergh, Lodewyk J Mienie. Treatment of an adrenomyeloneuropathy patient with Lorenzo's oil and supplementation with docosahexaenoic acid--a case report.
Lipids in health and disease.
2011 Aug; 10(?):152. doi:
10.1186/1476-511x-10-152
. [PMID: 21871076] - Christian Degen, Alfred Lochner, Sylvia Keller, Katrin Kuhnt, Sven Dänicke, Gerhard Jahreis. Influence of in vitro supplementation with lipids from conventional and Alpine milk on fatty acid distribution and cell growth of HT-29 cells.
Lipids in health and disease.
2011 Aug; 10(?):131. doi:
10.1186/1476-511x-10-131
. [PMID: 21816049] - 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] - William B Rizzo. The role of fatty aldehyde dehydrogenase in epidermal structure and function.
Dermato-endocrinology.
2011 Apr; 3(2):91-9. doi:
10.4161/derm.3.2.14619
. [PMID: 21695018] - 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]
- Minoru Nakayama, Hiroyasu Sato, Takayuki Okuda, Nao Fujisawa, Nozomu Kono, Hiroyuki Arai, Emiko Suzuki, Masato Umeda, Hiroyuki O Ishikawa, Kenji Matsuno. Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes.
PloS one.
2011; 6(8):e22984. doi:
10.1371/journal.pone.0022984
. [PMID: 21826223] - Juryoun Soh, Dae Young Kwon, Youn-Soo Cha. Hepatic gene expression profiles are altered by dietary unsalted korean fermented soybean (chongkukjang) consumption in mice with diet-induced obesity.
Journal of nutrition and metabolism.
2011; 2011(?):260214. doi:
10.1155/2011/260214
. [PMID: 21437188] - 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] - Mikhail M Moisenovich, Valentina A Ol'shevskaya, Tatyana I Rokitskaya, Alla A Ramonova, Roza G Nikitina, Arina N Savchenko, Victor V Tatarskiy, Mikhail A Kaplan, Valery N Kalinin, Elena A Kotova, Oleg V Uvarov, Igor I Agapov, Yuri N Antonenko, Alexander A Shtil. Novel photosensitizers trigger rapid death of malignant human cells and rodent tumor transplants via lipid photodamage and membrane permeabilization.
PloS one.
2010 Sep; 5(9):e12717. doi:
10.1371/journal.pone.0012717
. [PMID: 20856679] - Manuela Martinez, Natalia Ichaso, Fernando Setien, Nuria Durany, Xiao Qiu, William Roesler. The Δ4-desaturation pathway for DHA biosynthesis is operative in the human species: differences between normal controls and children with the Zellweger syndrome.
Lipids in health and disease.
2010 Sep; 9(?):98. doi:
10.1186/1476-511x-9-98
. [PMID: 20828389] - 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] - Hitoshi Kotani, Hiroki Tanabe, Hajime Mizukami, Makoto Makishima, Makoto Inoue. Identification of a naturally occurring rexinoid, honokiol, that activates the retinoid X receptor.
Journal of natural products.
2010 Aug; 73(8):1332-6. doi:
10.1021/np100120c
. [PMID: 20695472] - 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] - Maiko Mitake, Hiroko Ogawa, Kazuo Uebaba, Yoshihiro Shidoji. Increase in plasma concentrations of geranylgeranoic Acid after turmeric tablet intake by healthy volunteers.
Journal of clinical biochemistry and nutrition.
2010 May; 46(3):252-8. doi:
10.3164/jcbn.09-109
. [PMID: 20490321] - 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] - 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] - Maryam Rakhshandehroo, Bianca Knoch, Michael Müller, Sander Kersten. Peroxisome proliferator-activated receptor alpha target genes.
PPAR research.
2010; 2010(?):. doi:
10.1155/2010/612089
. [PMID: 20936127] - Tsuyoshi Goto, Nobuyuki Takahashi, Shizuka Hirai, Teruo Kawada. Various Terpenoids Derived from Herbal and Dietary Plants Function as PPAR Modulators and Regulate Carbohydrate and Lipid Metabolism.
PPAR research.
2010; 2010(?):483958. doi:
10.1155/2010/483958
. [PMID: 20613991] - Cindy Krause, Hendrik Rosewich, Jutta Gärtner. Rational diagnostic strategy for Zellweger syndrome spectrum patients.
European journal of human genetics : EJHG.
2009 Jun; 17(6):741-8. doi:
10.1038/ejhg.2008.252
. [PMID: 19142205] - 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] - Iria Nieto-Vazquez, Sonia Fernández-Veledo, Cristina de Alvaro, Margarita Lorenzo. Dual role of interleukin-6 in regulating insulin sensitivity in murine skeletal muscle.
Diabetes.
2008 Dec; 57(12):3211-21. doi:
10.2337/db07-1062
. [PMID: 18796617] - Darren Magda, Philip Lecane, Julia Prescott, Patricia Thiemann, Xuan Ma, Patricia K Dranchak, Donna M Toleno, Krishna Ramaswamy, Kimberly D Siegmund, Joseph G Hacia. mtDNA depletion confers specific gene expression profiles in human cells grown in culture and in xenograft.
BMC genomics.
2008 Nov; 9(?):521. doi:
10.1186/1471-2164-9-521
. [PMID: 18980691] - 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] - Rosalba Carrozzo, Carlo Bellini, Simona Lucioli, Federica Deodato, Denise Cassandrini, Michela Cassanello, Ubaldo Caruso, Cristiano Rizzo, Teresa Rizza, Matteo L Napolitano, Ronald J A Wanders, Cornelis Jakobs, Claudio Bruno, Filippo M Santorelli, Carlo Dionisi-Vici, Eugenio Bonioli. Peroxisomal acyl-CoA-oxidase deficiency: two new cases.
American journal of medical genetics. Part A.
2008 Jul; 146A(13):1676-81. doi:
10.1002/ajmg.a.32298
. [PMID: 18536048] - C H Raine, M F Kurukulasuriya, Y Bajaj, D R Strachan. Cochlear implantation in Refsum's disease.
Cochlear implants international.
2008 Jun; 9(2):97-102. doi:
10.1179/cim.2008.9.2.97
. [PMID: 18698664] - Osman A B S M Gani. Are fish oil omega-3 long-chain fatty acids and their derivatives peroxisome proliferator-activated receptor agonists?.
Cardiovascular diabetology.
2008 Mar; 7(?):6. doi:
10.1186/1475-2840-7-6
. [PMID: 18355413] - 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] - Davide Genini, Giuseppina M Carbone, Carlo V Catapano. Multiple Interactions between Peroxisome Proliferators-Activated Receptors and the Ubiquitin-Proteasome System and Implications for Cancer Pathogenesis.
PPAR research.
2008; 2008(?):195065. doi:
10.1155/2008/195065
. [PMID: 18551186] - Maria Stacewicz-Sapuntzakis, Gayatri Borthakur, James L Burns, Phyllis E Bowen. Correlations of dietary patterns with prostate health.
Molecular nutrition & food research.
2008 Jan; 52(1):114-30. doi:
10.1002/mnfr.200600296
. [PMID: 18080240] - Bing Song Zheng, Elin Rönnberg, Lenita Viitanen, Tiina A Salminen, Krister Lundgren, Thomas Moritz, Johan Edqvist. Arabidopsis sterol carrier protein-2 is required for normal development of seeds and seedlings.
Journal of experimental botany.
2008; 59(12):3485-99. doi:
10.1093/jxb/ern201
. [PMID: 18687588] - 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] - J Gloerich, D M van den Brink, J P N Ruiter, N van Vlies, F M Vaz, R J A Wanders, S Ferdinandusse. Metabolism of phytol to phytanic acid in the mouse, and the role of PPARalpha in its regulation.
Journal of lipid research.
2007 Jan; 48(1):77-85. doi:
10.1194/jlr.m600050-jlr200
. [PMID: 17015885] - 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] - M R F Lee, P L Connelly, J K S Tweed, R J Dewhurst, R J Merry, N D Scollan. Effects of high-sugar ryegrass silage and mixtures with red clover silage on ruminant digestion. 2. Lipids.
Journal of animal science.
2006 Nov; 84(11):3061-70. doi:
10.2527/jas.2005-736
. [PMID: 17032800] - 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] - Nathalie Lepage, Dailin Li, Peter A Kavsak, Fiona Bamforth, John Callahan, Kent Dooley, Murray Potter. Incomplete pediatric reference intervals for the management of patients with inborn errors of metabolism.
Clinical biochemistry.
2006 Jun; 39(6):595-9. doi:
10.1016/j.clinbiochem.2006.02.011
. [PMID: 16595129] - H Rosewich, H R Waterham, R J A Wanders, S Ferdinandusse, M Henneke, D Hunneman, J Gärtner. Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect.
Neuropediatrics.
2006 Apr; 37(2):95-8. doi:
10.1055/s-2006-923943
. [PMID: 16773508] - 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] - 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] - Barbara P Atshaves, Avery L McIntosh, H Ross Payne, John Mackie, Ann B Kier, Friedhelm Schroeder. Effect of branched-chain fatty acid on lipid dynamics in mice lacking liver fatty acid binding protein gene.
American journal of physiology. Cell physiology.
2005 Mar; 288(3):C543-58. doi:
10.1152/ajpcell.00359.2004
. [PMID: 15692150] - 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] - 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] - 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] - Barbara P Atshaves, Avery M McIntosh, Olga I Lyuksyutova, Warren Zipfel, Watt W Webb, Friedhelm Schroeder. Liver fatty acid-binding protein gene ablation inhibits branched-chain fatty acid metabolism in cultured primary hepatocytes.
The Journal of biological chemistry.
2004 Jul; 279(30):30954-65. doi:
10.1074/jbc.m313571200
. [PMID: 15155724] - 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] - Yoshihiro Shidoji, Hiroko Ogawa. Natural occurrence of cancer-preventive geranylgeranoic acid in medicinal herbs.
Journal of lipid research.
2004 Jun; 45(6):1092-103. doi:
10.1194/jlr.m300502-jlr200
. [PMID: 15060084] - Barbara P Atshaves, H Ross Payne, Avery L McIntosh, Shane E Tichy, David Russell, Ann B Kier, Friedhelm Schroeder. Sexually dimorphic metabolism of branched-chain lipids in C57BL/6J mice.
Journal of lipid research.
2004 May; 45(5):812-30. doi:
10.1194/jlr.m300408-jlr200
. [PMID: 14993239] - 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] - Jonathan T Goldstein, Agnieszka Dobrzyn, Margaret Clagett-Dame, J Wesley Pike, Hector F DeLuca. Isolation and characterization of unsaturated fatty acids as natural ligands for the retinoid-X receptor.
Archives of biochemistry and biophysics.
2003 Dec; 420(1):185-93. doi:
10.1016/j.abb.2003.09.034
. [PMID: 14622989] - 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] - 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] - 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] - 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] - John J DiGiovanna, Leslie Robinson-Bostom. Ichthyosis: etiology, diagnosis, and management.
American journal of clinical dermatology.
2003; 4(2):81-95. doi:
10.2165/00128071-200304020-00002
. [PMID: 12553849] - Kenneth D R Setchell, James E Heubi, Kevin E Bove, Nancy C O'Connell, Tracy Brewsaugh, Steven J Steinberg, Ann Moser, Robert H Squires. Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy.
Gastroenterology.
2003 Jan; 124(1):217-32. doi:
10.1053/gast.2003.50017
. [PMID: 12512044] - 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] - 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] - 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] - 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] - 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] - 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] - 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] - 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] - 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] - 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] - 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] - P P Van Veldhoven, M Casteels, G P Mannaerts, M Baes. Further insights into peroxisomal lipid breakdown via alpha- and beta-oxidation.
Biochemical Society transactions.
2001 May; 29(Pt 2):292-8. doi:
10.1042/0300-5127:0290292
. [PMID: 11356170] - . .
.
. doi:
. [PMID: 17510064]