MiMeDB: Showing metabocard for Phytanic acid (MMDBc0000369)

Record Information

Version

1.0

Status

Detected and Quantified

Creation Date

2020-12-10 18:36:17 UTC

Update Date

2024-10-09 19:29:00 UTC

Metabolite ID

MMDBc0000369

Metabolite Identification

Common Name

Phytanic acid

Description

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 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

MOL SDF PDB SMILES InChI

Synonyms

Value	Source
3,7,11,15-Tetramethyl hexadecanoic acid	ChEBI
3,7,11,15-Tetramethyl-hexadecanoic acid	ChEBI
3,7,11,15-Tetramethyl-hexadecansaeure	ChEBI
3,7,11,15-Tetramethylhexadecanoic acid	Kegg
3,7,11,15-Tetramethyl hexadecanoate	Generator
3,7,11,15-Tetramethyl-hexadecanoate	Generator
3,7,11,15-Tetramethylhexadecanoate	Generator
Phytanate	Generator
3,7,11,15-Tetramethylhexadecoanoate	HMDB
3,7,11,15-Tetramethylhexadecoanoic acid	HMDB
Phytanoate	HMDB
Phytanoic acid	HMDB
Acid, phytanic	HMDB

Molecular Formula

C₂₀H₄₀O₂

Average Mass

312.5304

Monoisotopic Mass

312.302830524

IUPAC Name

Not Available

Traditional Name

Not Available

CAS Registry Number

Not Available

SMILES

Not Available

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 Key

RLCKHJSFHOZMDR-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.

Kingdom

Organic compounds

Super Class

Lipids and lipid-like molecules

Class

Prenol lipids

Sub Class

Diterpenoids

Direct Parent

Acyclic 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 Framework

Aliphatic acyclic compounds

External Descriptors

long-chain fatty acid (CHEBI:16285 )
branched-chain saturated fatty acid (CHEBI:16285 )
methyl-branched fatty acid (CHEBI:16285 )
Acyclic diterpenoids (C01607 )

Functional Ontology

Not Available

Physical Properties

State

Expected Solid

Predicted Properties

Not Available

Spectra

Not Available

Biological Properties

Cellular Locations

Cytoplasm
Extracellular
Membrane
Peroxisome

Biospecimen Locations

Blood
Feces
Fibroblasts
Liver
Neuron
Prostate

Tissue Locations

Fibroblasts
Liver
Neuron
Prostate

Associated OMIM IDs

114500 (Colorectal cancer)
610247 (Eosinophilic esophagitis)

Human Proteins and Enzymes

Protein ID	Protein Name	Protein Type	Uniprot ID	Species

Human Pathways

Pathways

Name	SMPDB/PathBank

Metabolic Reactions

Reactions

Reaction ID	Precursor	Product	Enzyme	Data Source	Reference
MMDBr0001118	Phytanic acid	Phytanoyl Coenzyme A	solute carrier family 27 (fatty acid transporter), member 2	VMH	30371894
MMDBr0002030	Phytanoyl Coenzyme A	Phytanic acid	acyl-CoA thioesterase 2	VMH	10944470
MMDBr0004486	Phytanic acid	Phytanoyl-CoA	Not Available	VMH	11356164
MMDBr0004487	Phytanic acid	Phytanoyl-CoA	solute carrier family 27 (fatty acid transporter), member 2	VMH	11356164
MMDBr0005249	Phytanic acid	Phytanoyl Coenzyme A	solute carrier family 27 (fatty acid transporter), member 2	VMH	11591435

Health Effects and Bioactivity

Health Outcome/Bioactivity	Metabolite Response/Effect	Evidence Type	Host and Biospecimen	Data Source	Reference
Adrenoleukodystrophy	Slight Increase	Association	Human Blood	HMDB	2408988
Cerebrotendinous xanthomatosis		Association	Human Blood	HMDB	16445943
Infantile refsum's disease	Increased	Association	Human Blood	HMDB	2408988
Infantile refsum's disease	Increased	Association	Human Blood	HMDB	2427795
Refsum's disease		Association	Human Blood	HMDB	2408988
Refsum's disease		Association	Human Blood	HMDB	2433405
Refsum's disease	Increased	Association	Human Blood	HMDB	12700346
Adrenoleukodystrophy	Increased	Association	Human Blood	HMDB	MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)

Microbial Sources

Superkingdom/Kingdom	Phylum	Total species	Hosts and Body Sites	Microbial Links
Bacteria	Firmicutes	1		Indirect association between microbiota composition and metabolites measured in host biospecimen

Exposure Sources

Source Type	Source Sub-type	Species	Data Source	Reference
Animal	Milk	Bos taurus	FooDB	31437929

Host Biospecimen and Location

Host and Biospecimen	Status	Mean	Min	Max	Units	Age	Sex	Health Condition	Data Source	Reference
Human Feces	Detected but not Quantified								HMDB
Human Blood	Detected and Quantified		3.200	15.998	uM	Children (1-13 years old)	Not Specified	Adrenoleukodystrophy, X-linked	HMDB	2408988
Human Blood	Detected and Quantified	20			uM	Adult (>18 years old)	Male	Alpha-Methylacyl-CoA racemase deficiency	HMDB	11861706
Human Blood	Detected and Quantified	8.639			uM	Adult (>18 years old)	Male	27-hydroxylase deficiency	HMDB	16445943
Human Blood	Detected and Quantified		399.961	479.953	uM	Children (1-13 years old)	Not Specified	Refsum disease, infantile	HMDB	2408988
Human Blood	Detected and Quantified	40.3	27.5	53.0	uM	Adult (>18 years old)	Both	Infantile Refsum disease	HMDB	2427795
Human Blood	Detected and Quantified	5.46			uM	Newborn (0-30 days old)	Not Specified	Zellweger syndrome	HMDB	9818927
Human Blood	Detected and Quantified		3.200	1391.865	uM	Children (1-13 years old)	Both	Zellweger syndrome	HMDB	7931872
Human Blood	Detected and Quantified		9.599	86.392	uM	Infant (0-1 year old)	Both	Zellweger syndrome	HMDB	2418187
Human Blood	Detected and Quantified		26.557	30.717	uM	Children (1-13 years old)	Male	Peroxisomal disorders, new type, liver	HMDB	7931872
Human Blood	Detected and Quantified		0	6.4	uM	Children (1-13 years old)	Both	Pseudoneonatal adrenoleukodystrophy	HMDB	2894756
Human Blood	Detected and Quantified	1439.86			uM	Infant (0-1 year old)	Not Specified	Refsum disease, classic, adult-onset	HMDB	2408988
Human Blood	Detected and Quantified	6335.384			uM	Infant (0-1 year old)	Not Specified	Refsum disease, classic, early-onset	HMDB	2408988
Human Blood	Detected and Quantified		0	2335.773	uM	Adult (>18 years old)	Not Specified	Classicle Refsum's disease	HMDB	2433405
Human Blood	Detected and Quantified	410.0	46.0	1127.0	uM	Adult (>18 years old)	Both	Refsum's Disease	HMDB	12700346
Human Blood	Detected and Quantified	197			uM	Newborn (0-30 days old)	Female	Rhizomelic chondrodysplasia punctata	HMDB	9818927
Human Blood	Detected and Quantified	0.86			uM	Adult (>18 years old)	Female	Normal	HMDB	17868488
Human Blood	Detected and Quantified	3.93			uM	Adult (>18 years old)	Female	Normal	HMDB	17868488
Human Blood	Detected and Quantified	5.77			uM	Adult (>18 years old)	Female	Normal	HMDB	17868488
Human Blood	Detected and Quantified	<10			uM	Children (1-13 years old)	Not Specified	Normal	HMDB	2894756
Human Blood	Detected and Quantified	<12.800			uM	Adult (>18 years old)	Male	Normal	HMDB	11861706
Human Blood	Detected and Quantified		0	12.799	uM	Children (1-13 years old)	Both	Normal	HMDB	7931872
Human Blood	Detected and Quantified		1.600	11.199	uM	Not Specified	Not Specified	Normal	HMDB	16445943
Human Blood	Detected and Quantified	2.7	2.0	4.0	uM	Adult (>18 years old)	Both	Normal	HMDB	12700346
Human Blood	Detected and Quantified	4.8	0.0	9.6	uM	Adult (>18 years old)	Both	Normal	HMDB	2427795
Human Blood	Detected and Quantified	72.0	64.0	80.0	uM	Children (1-13 years old)	Both	Adrenoleukodystrophy (ALD)	HMDB	MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de)
Human Blood	Detected and Quantified	6.719			uM	Not Specified	Not Specified	Normal	HMDB	Geigy Scientific Tables, 8th Rev edition, pp. 130. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp. Basel, Switzerland c1981-1992.
Human Fibroblasts	Detected but not Quantified					Not Specified	Not Specified	Normal	HMDB	34986597
Human Liver	Detected but not Quantified					Not Specified	Not Specified	Normal	HMDB	34986597
Human Neuron	Detected but not Quantified					Not Specified	Not Specified	Normal	HMDB	34986597
Human Prostate	Detected but not Quantified					Not Specified	Not Specified	Normal	HMDB	34986597
Human Feces	Detected but not Quantified					Adult (>18 years old)	Both	Normal	HMDB	27543620
Human Feces	Detected but not Quantified					Adult (>18 years old)	Both	Normal	HMDB	25037050
Human Feces	Detected but not Quantified					Adult (>18 years old)	Both	Normal	HMDB	29808030

External Links

HMDB ID

HMDB0000801

DrugBank ID

Not Available

Phenol Explorer Compound ID

Not Available

FooDB ID

FDB022252

KNApSAcK ID

Not Available

Chemspider ID

25001

KEGG Compound ID

C01607

BioCyc ID

Not Available

BiGG ID

Wikipedia Link

METLIN ID

PubChem Compound

PDB ID

Not Available

ChEBI ID

16285

Food Biomarker Ontology

Not Available

References

Synthesis Reference

Not Available

General References

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. doi: 10.1007/BF02534855. [PubMed:2436023 ]
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 ]
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. doi: 10.1016/0014-5793(93)80395-b. [PubMed:8224157 ]
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. doi: 10.1007/BF00711425. [PubMed:9053544 ]
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. doi: 10.1016/s0014-5793(99)01009-1. [PubMed:10471774 ]
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 ]
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 ]
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 ]
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. doi: 10.1096/fj.01-0816fje. Epub 2002 Mar 26. [PubMed:11923221 ]
Cakirer S, Savas MR: Infantile Refsum disease: serial evaluation with MRI. Pediatr Radiol. 2005 Feb;35(2):212-5. doi: 10.1007/s00247-004-1332-3. Epub 2004 Oct 6. [PubMed:15480616 ]
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. doi: 10.1002/pros.20233. [PubMed:15712232 ]
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. doi: 10.1016/j.ymgme.2005.02.005. Epub 2005 Mar 17. [PubMed:15979030 ]

Showing metabocard for Phytanic acid (MMDBc0000369)

MOL for #<Metabolite:0x00007f4678ae8600>

3D MOL for #<Metabolite:0x00007f4678ae8600>

3D SDF for #<Metabolite:0x00007f4678ae8600>

3D-SDF for #<Metabolite:0x00007f4678ae8600>

PDB for #<Metabolite:0x00007f4678ae8600>

3D PDB for #<Metabolite:0x00007f4678ae8600>

SMILES for #<Metabolite:0x00007f4678ae8600>

INCHI for #<Metabolite:0x00007f4678ae8600>

Structure for #<Metabolite:0x00007f4678ae8600>

3D Structure for #<Metabolite:0x00007f4678ae8600>