You are using an unsupported browser. Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database.
Record Information
Version4.0
StatusDetected and Quantified
Creation Date2005-11-16 15:48:42 UTC
Update Date2019-07-23 05:44:29 UTC
HMDB IDHMDB0000801
Secondary Accession Numbers
  • HMDB00801
Metabolite Identification
Common NamePhytanic acid
DescriptionPhytanic 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 acid's 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.
Structure
Data?1563860669
Synonyms
ValueSource
3,7,11,15-Tetramethyl hexadecanoic acidChEBI
3,7,11,15-Tetramethyl-hexadecanoic acidChEBI
3,7,11,15-Tetramethyl-hexadecansaeureChEBI
3,7,11,15-Tetramethylhexadecanoic acidKegg
3,7,11,15-Tetramethyl hexadecanoateGenerator
3,7,11,15-Tetramethyl-hexadecanoateGenerator
3,7,11,15-TetramethylhexadecanoateGenerator
PhytanateGenerator
3,7,11,15-TetramethylhexadecoanoateHMDB
3,7,11,15-Tetramethylhexadecoanoic acidHMDB
PhytanoateHMDB
Phytanoic acidHMDB
Acid, phytanicHMDB
Chemical FormulaC20H40O2
Average Molecular Weight312.5304
Monoisotopic Molecular Weight312.302830524
IUPAC Name3,7,11,15-tetramethylhexadecanoic acid
Traditional Namephytanic acid
CAS Registry Number14721-66-5
SMILES
CC(C)CCCC(C)CCCC(C)CCCC(C)CC(O)=O
InChI Identifier
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)
InChI KeyRLCKHJSFHOZMDR-UHFFFAOYSA-N
Chemical Taxonomy
Description belongs to the class of organic compounds known as acyclic diterpenoids. These are diterpenoids (compounds made of four consecutive isoprene units) that do not contain a cycle.
KingdomOrganic compounds
Super ClassLipids and lipid-like molecules
ClassPrenol lipids
Sub ClassDiterpenoids
Direct ParentAcyclic diterpenoids
Alternative Parents
Substituents
  • Acyclic diterpenoid
  • Long-chain fatty acid
  • Methyl-branched fatty acid
  • Branched fatty acid
  • Fatty acyl
  • Fatty acid
  • Monocarboxylic acid or derivatives
  • Carboxylic acid
  • Carboxylic acid derivative
  • Organic oxygen compound
  • Organic oxide
  • Hydrocarbon derivative
  • Organooxygen compound
  • Carbonyl group
  • Aliphatic acyclic compound
Molecular FrameworkAliphatic acyclic compounds
External Descriptors
Ontology
Physiological effect

Health effect:

Disposition

Route of exposure:

Source:

Biological location:

Process

Naturally occurring process:

Role

Industrial application:

Biological role:

Physical Properties
StateSolid
Experimental Properties
PropertyValueReference
Melting PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Predicted Properties
PropertyValueSource
Water Solubility8.2e-05 g/LALOGPS
logP7.28ALOGPS
logP7.4ChemAxon
logS-6.6ALOGPS
pKa (Strongest Acidic)5.04ChemAxon
Physiological Charge-1ChemAxon
Hydrogen Acceptor Count2ChemAxon
Hydrogen Donor Count1ChemAxon
Polar Surface Area37.3 ŲChemAxon
Rotatable Bond Count14ChemAxon
Refractivity95.28 m³·mol⁻¹ChemAxon
Polarizability41.09 ųChemAxon
Number of Rings0ChemAxon
Bioavailability0ChemAxon
Rule of FiveYesChemAxon
Ghose FilterYesChemAxon
Veber's RuleYesChemAxon
MDDR-like RuleYesChemAxon
Spectra
Spectrum TypeDescriptionSplash KeyView
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (Non-derivatized) - 70eV, Positivesplash10-0006-9780000000-d08f456f5acb304b7ea2JSpectraViewer | MoNA
Predicted GC-MSPredicted GC-MS Spectrum - GC-MS (1 TMS) - 70eV, Positivesplash10-00y0-9443000000-5bbc79ddca11ee15c346JSpectraViewer | MoNA
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 10V, Positive (Annotated)splash10-03di-0009000000-1344b5ce122597753d72JSpectraViewer | MoNA
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 25V, Positive (Annotated)splash10-00e9-9000000000-d058ed1cd7bf2496d801JSpectraViewer | MoNA
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 40V, Positive (Annotated)splash10-01b9-9000000000-b91cf96bf3e1ed9907c9JSpectraViewer | MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Positivesplash10-0002-0192000000-404c7c552fbd445291f4JSpectraViewer | MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Positivesplash10-00mk-4790000000-c4c72f2a0388e83c4d50JSpectraViewer | MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Positivesplash10-0a4i-9720000000-e2429e81001f3469126aJSpectraViewer | MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 10V, Negativesplash10-03xr-0089000000-e67aa3a53cb223588aceJSpectraViewer | MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 20V, Negativesplash10-02tc-1094000000-c8ba97412b0185f5a5b3JSpectraViewer | MoNA
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 40V, Negativesplash10-0a4l-8590000000-02e2e52e9c0e6f20a064JSpectraViewer | MoNA
Biological Properties
Cellular Locations
  • Cytoplasm
  • Extracellular
  • Membrane
  • Peroxisome
Biospecimen Locations
  • Blood
  • Feces
Tissue Locations
  • Fibroblasts
  • Liver
  • Myelin
  • Prostate
Pathways
Normal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified4.8 (0.0-9.6) uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified2.7 (2.0-4.0) uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified<12.800 uMAdult (>18 years old)Male
Normal
details
BloodDetected and Quantified0-12.799 uMChildren (1-13 years old)BothNormal details
BloodDetected and Quantified1.600-11.199 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified3.93 uMAdult (>18 years old)Female
Normal
details
BloodDetected and Quantified5.77 uMAdult (>18 years old)Female
Normal
details
BloodDetected and Quantified0.86 uMAdult (>18 years old)Female
Normal
details
BloodDetected and Quantified6.719 uMNot SpecifiedNot SpecifiedNormal
    • Geigy Scientific ...
details
BloodDetected and Quantified<10 uMChildren (1-13 years old)Not SpecifiedNormal details
FecesDetected but not Quantified Adult (>18 years old)Both
Normal
details
FecesDetected but not Quantified Adult (>18 years old)Both
Normal
details
FecesDetected but not Quantified Adult (>18 years old)Both
Normal
details
Abnormal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified40.3 (27.5-53.0) uMAdult (>18 years old)BothInfantile Refsum disease details
BloodDetected and Quantified72.0 (64.0-80.0) uMChildren (1-13 years old)BothAdrenoleukodystrophy (ALD)
    • MetaGene: Metabol...
details
BloodDetected and Quantified410.0 (46.0-1127.0) uMAdult (>18 years old)BothRefsum's Disease details
BloodDetected and Quantified20 uMAdult (>18 years old)Male
Alpha-Methylacyl-CoA racemase deficiency
details
BloodDetected and Quantified5.46 uMNewborn (0-30 days old)Not Specified
Zellweger syndrome
details
BloodDetected and Quantified9.75 uMInfant (0-1 year old)Male
Peroxisomal biogenesis disorder
details
BloodDetected and Quantified197 uMNewborn (0-30 days old)Female
Rhizomelic chondrodysplasia punctata
details
BloodDetected and Quantified1439.86 uMInfant (0-1 year old)Not Specified
Refsum disease, classic, adult-onset
details
BloodDetected and Quantified6335.384 uMInfant (0-1 year old)Not Specified
Refsum disease, classic, early-onset
details
BloodDetected and Quantified0-2335.773 uMAdult (>18 years old)Not SpecifiedClassicle Refsum's disease details
BloodDetected and Quantified0-50.300 uMNewborn (0-30 days old)Not Specified
Neonatal adrenoleukodystrophy
details
BloodDetected and Quantified26.557-30.717 uMChildren (1-13 years old)Male
Peroxisomal disorders, new type, liver
details
BloodDetected and Quantified3.200-1391.865 uMChildren (1-13 years old)BothZellweger syndrome details
BloodDetected and Quantified3.200-15.998 uMChildren (1-13 years old)Not SpecifiedAdrenoleukodystrophy, X-linked details
BloodDetected and Quantified34.800-274 uMChildren (1-13 years old)Female
Peroxisomal biogenesis disorder
details
BloodDetected and Quantified399.961-479.953 uMChildren (1-13 years old)Not Specified
Refsum disease, infantile
details
BloodDetected and Quantified6.400-34.800 uMNewborn (0-30 days old)Female
Peroxisomal biogenesis disorder
details
BloodDetected and Quantified9.599-28.797 uMNewborn (0-30 days old)BothNeonatal adrenoleukodystrophy details
BloodDetected and Quantified9.599-67.193 uMChildren (1-13 years old)Not Specified
Refsum disease, juvenile
details
BloodDetected and Quantified9.599-86.392 uMInfant (0-1 year old)Both
Zellweger syndrome
details
BloodDetected and Quantified8.639 uMAdult (>18 years old)Male
27-hydroxylase deficiency
details
BloodDetected and Quantified0-6.4 uMChildren (1-13 years old)BothPseudoneonatal adrenoleukodystrophy details
FecesDetected but not Quantified Adult (>18 years old)Both
Colorectal cancer
details
FecesDetected but not Quantified Adult (>18 years old)BothColorectal Cancer details
Associated Disorders and Diseases
Disease References
Refsum's disease
  1. Wierzbicki AS, Mayne PD, Lloyd MD, Burston D, Mei G, Sidey MC, Feher MD, Gibberd FB: Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease. J Lipid Res. 2003 Aug;44(8):1481-8. Epub 2003 Apr 16. [PubMed:12700346 ]
  2. Poulos A, Sharp P, Fellenberg AJ, Danks DM: Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase. Hum Genet. 1985;70(2):172-7. [PubMed:2408988 ]
  3. Skjeldal OH, Stokke O, Refsum S, Norseth J, Petit H: Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation. J Neurol Sci. 1987 Jan;77(1):87-96. [PubMed:2433405 ]
Infantile Refsum's disease
  1. Poll-The BT, Saudubray JM, Ogier H, Schutgens RB, Wanders RJ, Schrakamp G, van den Bosch H, Trijbels JM, Poulos A, Moser HW, et al.: Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. J Inherit Metab Dis. 1986;9(2):169-74. [PubMed:2427795 ]
  2. Poulos A, Sharp P, Fellenberg AJ, Danks DM: Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase. Hum Genet. 1985;70(2):172-7. [PubMed:2408988 ]
Adrenoleukodystrophy
  1. Poulos A, Sharp P, Fellenberg AJ, Danks DM: Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase. Hum Genet. 1985;70(2):172-7. [PubMed:2408988 ]
  2. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
Peroxisomal biogenesis defect
  1. Baumgartner MR, Poll-The BT, Verhoeven NM, Jakobs C, Espeel M, Roels F, Rabier D, Levade T, Rolland MO, Martinez M, Wanders RJ, Saudubray JM: Clinical approach to inherited peroxisomal disorders: a series of 27 patients. Ann Neurol. 1998 Nov;44(5):720-30. [PubMed:9818927 ]
  2. Mandel H, Espeel M, Roels F, Sofer N, Luder A, Iancu TC, Aizin A, Berant M, Wanders RJ, Schutgens RB: A new type of peroxisomal disorder with variable expression in liver and fibroblasts. J Pediatr. 1994 Oct;125(4):549-55. [PubMed:7931872 ]
  3. Budden SS, Kennaway NG, Buist NR, Poulos A, Weleber RG: Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children. J Pediatr. 1986 Jan;108(1):33-9. [PubMed:2418187 ]
Rhizomelic chondrodysplasia punctata
  1. Baumgartner MR, Poll-The BT, Verhoeven NM, Jakobs C, Espeel M, Roels F, Rabier D, Levade T, Rolland MO, Martinez M, Wanders RJ, Saudubray JM: Clinical approach to inherited peroxisomal disorders: a series of 27 patients. Ann Neurol. 1998 Nov;44(5):720-30. [PubMed:9818927 ]
Peroxisomal disorders, new type, liver
  1. Mandel H, Espeel M, Roels F, Sofer N, Luder A, Iancu TC, Aizin A, Berant M, Wanders RJ, Schutgens RB: A new type of peroxisomal disorder with variable expression in liver and fibroblasts. J Pediatr. 1994 Oct;125(4):549-55. [PubMed:7931872 ]
  2. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
Alpha-Methylacyl-CoA racemase deficiency
  1. McLean BN, Allen J, Ferdinandusse S, Wanders RJ: A new defect of peroxisomal function involving pristanic acid: a case report. J Neurol Neurosurg Psychiatry. 2002 Mar;72(3):396-9. [PubMed:11861706 ]
Cerebrotendinous xanthomatosis
  1. Siman-Tov T, Meiner V, Gadoth N: Could steroids mask the diagnosis of cerebrotendinous xanthomatosis? J Neurol Sci. 2006 Apr 15;243(1-2):83-6. Epub 2006 Jan 30. [PubMed:16445943 ]
Pseudoneonatal adrenoleukodystrophy
  1. Poll-The BT, Roels F, Ogier H, Scotto J, Vamecq J, Schutgens RB, Wanders RJ, van Roermund CW, van Wijland MJ, Schram AW, et al.: A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am J Hum Genet. 1988 Mar;42(3):422-34. [PubMed:2894756 ]
Colorectal cancer
  1. Brown DG, Rao S, Weir TL, O'Malia J, Bazan M, Brown RJ, Ryan EP: Metabolomics and metabolic pathway networks from human colorectal cancers, adjacent mucosa, and stool. Cancer Metab. 2016 Jun 6;4:11. doi: 10.1186/s40170-016-0151-y. eCollection 2016. [PubMed:27275383 ]
  2. Goedert JJ, Sampson JN, Moore SC, Xiao Q, Xiong X, Hayes RB, Ahn J, Shi J, Sinha R: Fecal metabolomics: assay performance and association with colorectal cancer. Carcinogenesis. 2014 Sep;35(9):2089-96. doi: 10.1093/carcin/bgu131. Epub 2014 Jul 18. [PubMed:25037050 ]
Associated OMIM IDs
  • 266500 (Refsum's disease)
  • 266510 (Infantile Refsum's disease)
  • 300100 (Adrenoleukodystrophy)
  • 214100 (Peroxisomal biogenesis defect)
  • 215100 (Rhizomelic chondrodysplasia punctata)
  • 614307 (Alpha-Methylacyl-CoA racemase deficiency)
  • 213700 (Cerebrotendinous xanthomatosis)
  • 264470 (Pseudoneonatal adrenoleukodystrophy)
  • 114500 (Colorectal cancer)
DrugBank IDNot Available
Phenol Explorer Compound IDNot Available
FoodDB IDFDB022252
KNApSAcK IDNot Available
Chemspider ID25001
KEGG Compound IDC01607
BioCyc IDNot Available
BiGG ID37991
Wikipedia LinkPhytanic acid
METLIN ID5765
PubChem Compound26840
PDB IDNot Available
ChEBI ID16285
References
Synthesis ReferenceKarrer, P.; Epprecht, A.; Konig, Hans. General method of preparation for 2-methyl-3-alkylnaphthoquinones. Constitution and vitamin K activity. Helvetica Chimica Acta (1940), 23 272-83.
Material Safety Data Sheet (MSDS)Download (PDF)
General References
  1. Komen JC, Duran M, Wanders RJ: Characterization of phytanic acid omega-hydroxylation in human liver microsomes. Mol Genet Metab. 2005 Jul;85(3):190-5. Epub 2005 Mar 17. [PubMed:15979030 ]
  2. Schonfeld P, Struy H: Refsum disease diagnostic marker phytanic acid alters the physical state of membrane proteins of liver mitochondria. FEBS Lett. 1999 Aug 27;457(2):179-83. [PubMed:10471774 ]
  3. Xu J, Thornburg T, Turner AR, Vitolins M, Case D, Shadle J, Hinson L, Sun J, Liu W, Chang B, Adams TS, Zheng SL, Torti FM: Serum levels of phytanic acid are associated with prostate cancer risk. Prostate. 2005 May 15;63(3):209-14. [PubMed:15712232 ]
  4. Molzer B, Kainz-Korschinsky M, Sundt-Heller R, Bernheimer H: Phytanic acid and very long chain fatty acids in genetic peroxisomal disorders. J Clin Chem Clin Biochem. 1989 May;27(5):309-14. [PubMed:2474624 ]
  5. Cakirer S, Savas MR: Infantile Refsum disease: serial evaluation with MRI. Pediatr Radiol. 2005 Feb;35(2):212-5. Epub 2004 Oct 6. [PubMed:15480616 ]
  6. Bernscherer G, Berenyi E, Karabelyos C, Laszlo A, David Z, Hollody K, Toth EZ: [Refsum disease]. Orv Hetil. 2000 Jan 2;141(1):31-4. [PubMed:10673856 ]
  7. Heim M, Johnson J, Boess F, Bendik I, Weber P, Hunziker W, Fluhmann B: Phytanic acid, a natural peroxisome proliferator-activated receptor (PPAR) agonist, regulates glucose metabolism in rat primary hepatocytes. FASEB J. 2002 May;16(7):718-20. Epub 2002 Mar 26. [PubMed:11923221 ]
  8. Zomer AW, van Der Burg B, Jansen GA, Wanders RJ, Poll-The BT, van Der Saag PT: Pristanic acid and phytanic acid: naturally occurring ligands for the nuclear receptor peroxisome proliferator-activated receptor alpha. J Lipid Res. 2000 Nov;41(11):1801-7. [PubMed:11060349 ]
  9. Pahan K, Singh I: Intraorganellar localization of CoASH-independent phytanic acid oxidation in human liver peroxisomes. FEBS Lett. 1993 Oct 25;333(1-2):154-8. [PubMed:8224157 ]
  10. Poggi-Travert F, Fournier B, Poll-The BT, Saudubray JM: Clinical approach to inherited peroxisomal disorders. J Inherit Metab Dis. 1995;18 Suppl 1:1-18. [PubMed:9053544 ]
  11. Yao JK, Dyck PJ: Tissue distribution of phytanic acid and its analogues in a kinship with Refsum's disease. Lipids. 1987 Feb;22(2):69-75. [PubMed:2436023 ]
  12. Young SP, Johnson AW, Muller DP: Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease. Clin Sci (Lond). 2001 Dec;101(6):697-705. [PubMed:11724659 ]