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Phytanic AcidRefsum DiseasePhytolEicosanoic AcidsMicrobodiesChondrodysplasia PunctataChondrodysplasia Punctata, RhizomelicCoenzyme APeroxisomal DisordersOrganomercury CompoundsPeroxisomesCarbon-Carbon LyasesZellweger SyndromePan paniscusFatty AcidsMixed Function OxygenasesCoenzyme A LigasesOxidation-ReductionPongo pygmaeusNebraskaHydroxylationAdrenoleukodystrophyGorilla gorillaFatsGas Chromatography-Mass SpectrometryIohexolLiverAcetyl-CoA C-AcetyltransferasePalmitic AcidsHominidaeFormatesFibroblasts5,8,11,14-Eicosatetraynoic AcidRetinoid X ReceptorsMeat ProductsClofibric AcidDairy ProductsBezafibrateHealthMyelin P2 ProteinBiological TransportReceptors, Cytoplasmic and Nuclear
Alpha-oxidationLong chainPristanicBileOxidase deficiencyExogenousPhytanoyl-CoA hydroxyPHYHLipidsPeroxisomesAtaxiaPipecolic acidTissuesAdipose tissueMetabolismRefsumAmino acidUnclearEnzymeChain fattyChlorophyllCarboxylicIchthyosisDairyLipidDietaryBreakdownTriglyceridesToxicFatsDefectsHumansCompoundsBloodEnzymesLevelsDisorderDietPatientsCarbonConsumptionGeneticDisorders
Alpha-oxidation8
Long chain6
  • Adult Refsum disease should not be confused with infantile Refsum disease, a peroxisome biogenesis disorder resulting from deficiencies in the catabolism of very long chain fatty acids and branched chain fatty acids (such as phytanic acid) and plasmalogen biosynthesis. (wikipedia.org)
  • An infantile form of Refsum disease also exists and is an autosomal recessive disorder of peroxisomal biogenesis, leading to many biochemical abnormalities, including elevated plasma concentration of phytanic acid, pristanic acid, very long chain fatty acids, and C27 bile acids. (medscape.com)
  • With a chain length from 2 to 6 (or 4) they are called short-chain, from 8 (or 6) to 10 they are called medium-chain and 12 up to 24 they are called long-chain fatty acids. (gerli.com)
  • These enzymes overlap in function with those in mitochondria, with the exception that mitochondria lack enzymes to metabolize very long-chain fatty acids (VLCFA), those 20 to 26 carbons in length. (msdmanuals.com)
  • Inc, turnover of mediumand long-chain fatty acids are converted by the mcgraw-hill companies. (albionfoundation.org)
  • Other biochemical abnormalities such as hypocholesterolemia, and elevated very long chain fatty acids and trihydroxycholestanoic acid are usually present. (arizona.edu)
Pristanic6
  • Metabolic testing showing marked elevation of pristanic acid confirmed this diagnosis. (epilepsygenetics.net)
  • Pristanic acid and phytanic acid are both methylated branched fatty acids found in various dietary sources. (epilepsygenetics.net)
  • AMACR deficiency leads to an accumulation of pristanic acid. (epilepsygenetics.net)
  • In peroxisomes, the AMACR enzyme plays a role in the breakdown of a fatty acid called pristanic acid, which comes from meat and dairy foods in the diet. (medlineplus.gov)
  • In mitochondria, AMACR is thought to help further break down the molecules derived from pristanic acid. (medlineplus.gov)
  • The enzyme deficiency leads to accumulation of pristanic acid in the blood. (medlineplus.gov)
Bile6
  • Diagnosis is suspected when elevated blood levels of VLCFA, phytanic acid, bile acid intermediates, and pipecolic acid are detected and is confirmed by genetic testing. (msdmanuals.com)
  • AMACR gene mutations that result in a lack of functional AMACR enzyme have also been identified in infants with a life-threatening disorder called congenital bile acid synthesis defect type 4. (medlineplus.gov)
  • Some researchers consider congenital bile acid synthesis defect type 4 and AMACR deficiency (see above) to be variations of the same disorder. (medlineplus.gov)
  • Because most individuals with congenital bile acid synthesis defect type 4 do not survive infancy, it is unclear whether they would have later developed the neurological symptoms seen in adults with AMACR deficiency. (medlineplus.gov)
  • Hepatomegaly and jaundice may also be early diagnostic features as bile acid metabolism is defective. (arizona.edu)
  • By reducing fat absorption, bile acid sequestrants tend to reduce absorption and assimilation of vitamin A and other fat-soluble nutrients. (interactionsguide.com)
Oxidase deficiency1
  • It can be confirmed by laboratory investigations: phytanic acid oxidase deficiency and 3,7,11,15-tetramethyl-hexadecanic acid in serum and tissue deposits. (mhmedical.com)
Exogenous3
  • Refsum disease (adults form) is caused by mutations in the gene encoding phytanoyl-CoA hydroxylase (PHYH) on 10p13 resulting in accumulation of exogenous phytanic acid (milk, fat of cows and sheep) in blood plasma and tissues. (mhmedical.com)
  • Because the patients are unable to metabolize phytanic acid derived from exogenous sources, highly raised plasma phytanic acid (PA) level in tissues and body fluids is the hallmark of RD. (diseasesdic.com)
  • Refsum disease is associated with the accumulation of phytanic acid in plasma and tissues, which is an unusual branched-chain fatty acid (3,7,11,15-tetramethyl-hexadecanoic acid), derived from the chlorophyll and is present in the typical human diet (strictly exogenous source) consisting of dairy products, meats, and ruminant fats. (diseasesdic.com)
Phytanoyl-CoA hydroxy2
PHYH2
  • The PEX7 gene is located in the region of chromosome 6q22-24, and mutations were found in patients presenting with accumulation of phytanic acid with no PHYH mutation. (wikipedia.org)
  • The gene code of PHYH for the Phytanoyl-CoA enzyme is used to break down phytanic acid in the peroxisome. (diseasesdic.com)
Lipids3
  • At first It must be recalled that if the majority of the fatty acids found in lipids are monocarboxylic acids, some of them are dicarboxylic and constitute important metabolic or oxidation products of the previous ones. (gerli.com)
  • The changes are confined to cerebral white matter and suggest an accumulation of lipids, periventricular gliosis, delayed myelination, and a mild permanent myelin deficit. (ajnr.org)
  • The accumulation of fatty alcohols, the modification of macromolecules by fatty aldehydes, and the presence of high concentrations of biologically active lipids have been postulated as the underlying pathophysiologic mechanisms that give rise to the clinical features ( 6 - 13 ). (ajnr.org)
Peroxisomes5
Ataxia1
  • When phytanic acid accumulates, it causes a number of progressive problems, including retinitis pigmentosa, peripheral neuropathy, anosmia, deafness, cerebellar ataxia and elevated protein concentrations in the cerebrospinal fluid in the absence of an increased number of cells. (diseasesdic.com)
Pipecolic acid1
  • Diagnosis can be suspected from elevated serum phytanic and pipecolic acid (in 20% of patients) or by demonstration of decreased phytanic acid oxidation in cultured fibroblasts. (arizona.edu)
Tissues3
  • Refsum disease is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. (wikipedia.org)
  • Refsum disease (RD) is a neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in plasma and tissues. (medscape.com)
  • Phytanic acid replaces other fatty acids, including such essential ones as linoleic and arachidonic acids, in lipid moieties of various tissues. (medscape.com)
Adipose tissue1
  • Excessive accumulation of adipose tissue in cultured fish is an outstanding problem in aquaculture. (biomedcentral.com)
Metabolism5
  • It is still unclear what function phytanic acid plays physiologically in humans, but has been found to regulate fatty acid metabolism in the liver of mice. (wikipedia.org)
  • Phytanic acid is derived from the metabolism of chlorophyll. (mhmedical.com)
  • Refsum disease is a genetic disorder that affects the metabolism of the fatty acid phytanic acid. (diseasesdic.com)
  • Background Humans and rodents with impaired phytanic acid (PA) metabolism can accumulate toxic stores of PA that have deleterious effects on multiple organ systems. (sandiegozoo.org)
  • Given the adverse health effects resulting from PA over accumulation, we investigated the molecular evolution of thirteen PA metabolism genes in apes, Old world monkeys, and New world monkeys. (sandiegozoo.org)
Refsum4
Amino acid3
  • The most common mutation responsible for RCDP1 replaces the amino acid leucine at protein position 292 with a premature stop signal in the instructions for making peroxisomal biogenesis factor 7 (written as Leu292Ter or L292X). (medlineplus.gov)
  • Acox2, Scp2, and Pecr sequences had amino acid positions with accelerated substitution rates while Amacr had significant variation in evolutionary rates in apes relative to other primates. (sandiegozoo.org)
  • Most individuals with AMACR deficiency have an AMACR gene mutation that replaces a protein building block (amino acid) called serine with an amino acid called proline at position 52 in the enzyme sequence, written as Ser52Pro or S52P. (medlineplus.gov)
Unclear1
  • However, it is unclear how this accumulation is related to the specific signs and symptoms of AMACR deficiency. (medlineplus.gov)
Enzyme1
Chain fatty3
  • Among straight-chain fatty acids, the simplest are referred to as saturated fatty acids. (gerli.com)
  • FALDH catalyzes the oxidation of medium- and long-chain fatty aldehydes, derived from fatty alcohols or not, to the corresponding carboxylic acids ( Fig 1 ). (ajnr.org)
  • FALDH catalyzes the oxidation of long-chain fatty aldehydes (here, octadecanal) to the corresponding carboxylic acid. (ajnr.org)
Chlorophyll2
  • In ruminant animals, the gut fermentation of consumed plant materials liberates phytol, a constituent of chlorophyll, which is then converted to phytanic acid and stored in fats. (wikipedia.org)
  • Although humans cannot derive significant amounts of phytanic acid from the consumption of chlorophyll present in plant materials, it has been proposed that the great apes (chimpanzees, gorillas and orangutans) as well as other captive non-human primates can derive significant amounts of phytanic acid from the hindgut fermentation of plant materials. (wikipedia.org)
Carboxylic1
  • Carboxylic acids occur in many molecular forms. (gerli.com)
Ichthyosis1
  • [ 6 ] This situation leads to an essential fatty acid deficiency, which is associated with the development of ichthyosis. (medscape.com)
Dairy2
Lipid1
  • To describe precisely the structure of a fatty acid molecule, one must give the length of the carbon chain (number of carbon), the number of double bonds and also the exact position of these double bonds, this will define the biological reactivity of the fatty acid molecule and even of the lipid containing the fatty acids studied. (gerli.com)
Dietary1
Breakdown1
  • This disorder is classified as a leukodystrophy, or disease of white matter of the brain, associated with the breakdown of phytanic acid. (arizona.edu)
Triglycerides1
  • Mature adipocytes are known to play an important role controlling energy balance in mammals by storing fatty acids in the form of triglycerides in periods of excess of energy and by releasing fatty acids when are needed. (biomedcentral.com)
Toxic2
Fats1
  • The world production of fatty acids from the hydrolysis of natural fats and oils totaled about 4 million metric tons per year. (gerli.com)
Defects1
Humans1
Compounds1
  • Most fatty acids are straight-chain compounds with the most frequently an even number of carbon atoms. (gerli.com)
Blood1
Enzymes1
  • Recent research has shown that CYP4 isoform enzymes could help reduce the over-accumulation of phytanic acid in vivo. (wikipedia.org)
Levels1
Disorder1
  • also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. (nih.gov)
Diet1
  • A phytanic acid-restricted diet and combination docosahexaenoic acid and cholic acid therapy may inhibit disease progression. (medscape.com)
Patients1
  • Evaluating and monitoring patients with fatty acid oxidation and organic acid disorders. (kkh.com.sg)
Carbon1
  • Except fatty acyl-CoA, we have based our classification of fatty acids first on the type of carbon chain : either straight (or normal), or branched, or containing a carbon ring. (gerli.com)
Consumption2
  • As it is a good indication of the overall economic performance of a region, the consumption of fatty acids has tended to approximate the growth in the GNP of the region of their consumption. (gerli.com)
  • Fatty acids make up the greatest proportion of the current consumption of raw material in the chemical industry. (gerli.com)
Genetic1
  • To detect a genetic condition that leads to accumulation of thick mucus in different organs leading to severe chest infections and poor growth. (kkh.com.sg)
Disorders1
  • Detecting fatty acid oxidation disorders and several organic acidurias. (kkh.com.sg)