Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction

Poulos, A.; Sharp, P.; Fellenberg, A. J.; Johnson, David W.

doi:10.1007/bf00442211

Cited by 66 publications

(19 citation statements)

References 32 publications

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“…In our patient the only significant defect was in alpha-oxidation of phytanic acid. Pristanate was suppressed as is typical in ARD rather than elevated as in severe peroxisomal biogenesis disorders (Poulos et al 1988). Despite a phytanic acid-restricted diet for many years and repeated plasmapheresis, she continued to have an elevated plasma phytanic acid in the typical range for many treated patients (Baldwin et al 2010).…”

Section: Discussionmentioning

confidence: 99%

The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency

et al. 2016

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We describe the management and outcomes of pregnancy in a 27-year-old woman with infantile-onset Adult Refsum's disease (ARD). She presented in infancy but was diagnosed with ARD at the age of 10 on basis of phytanic acidaemia and later confirmed to have the phytanoyl-CoA hydroxylase ((PHYH) c.164delT, p. L55fsX12) mutation. Despite repeated plasmapheresis sessions and strict dietary surveillance for 20 years, her phytanic acid levels persistently stayed above the ideal target level of 100 mmol/L but remained below 400 mmol/L. Initially the pregnancy was uncomplicated but in the third trimester of pregnancy the patient was admitted to the hospital with fluctuating hypertension, sinus tachycardia and breathlessness. The patient was compliant with diet during pregnancy and her phytanic levels were remained well controlled: 177 and 188 mmol/L in the first and second trimester, respectively. Peri-partum management required a coordinated team approach including a high-calorie and restricted diet to reduce the risk of acute metabolic decompensation. During the induced labour she required 10% dextrose infusions.Post-partum it took the mother a long time to recover from childbirth -her appetite was poor due to post-natal depression and her body weight decreased rapidly by 11 kg within 3 weeks after childbirth, resulting in a spike in phytanic acid to 366 mmol/L. Measures were taken to minimise the risk of acute neurological decompensation. The infant was unaffected and has made normal developmental progress in the subsequent 2 years.

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Section: Discussionmentioning

confidence: 99%

The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency

et al. 2016

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“…Other peroxisomal disorders are also associated with an increase in VLC-FA and VLC-PUFA in brain and plasma (69)(70)(71)(72)(73)(74)(75)(76)(77). Postmortem analyses of 4 day-to 5 monthold whole brains of Zellweger patients showed higher concentrations of VLC-PUFA than those found in normal brains ( 16 ).…”

Section: Nomenclature and Structure Of Vlc-fa And Vlc-pufamentioning

confidence: 99%

Retinal very long-chain PUFAs: new insights from studies on ELOVL4 protein

Agbaga

Mandal

Anderson

2010

Journal of Lipid Research

147

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This article is available online at http://www.jlr.org tively rare compared with the abundance of FA containing 16-22 carbons, they are widely distributed in higher plants and animals ( 1-10 ). They are found in most living organisms from humans to autotrophic and heterotrophic lower organisms, including microalgae, sponges, bacteria, and fungi ( 1,9,(11)(12)(13)(14)(15). VLC-FA are found mainly in seed oils, plant waxes, cutin, suberin, skin, hair, and wax glands ( 1 ), whereas VLC-PUFA are found primarily in retina, brain ( 1, 16 ), testis, and spermatozoa ( 17-19 ).The unusually long hydrocarbon chains with 3 -9 double bonds, which are prone to oxidative damage, combined with the small quantities found in mammalian tissues, have made them diffi cult to isolate and analyze in detail over the years ( 9 ). Very little is therefore known about the metabolism and function of VLC-PUFA and VLC-FA in mammals, except for their increase in disorders of peroxisomal function ( 3,16,20,21 ), as components of the secretions of meibomian glands (22)(23)(24)(25)(26)(27), and their reduction in animal models of autosomal dominant Stargardt-like macular dystrophy (STGD3) ( 28-32 ), a juvenile form of macular degeneration. In contrast, the roles of long-chain PUFA (LC-PUFA) with carbon chains that range from C18 to C24 are fairly well understood, especially in the retina and other neural tissues. A detailed account on the role and function of LC-PUFA in the retina was reviewed earlier (33)(34)(35)(36).Recent interest in the molecular and physiological roles of VLC-PUFA in the retina came from the fi nding that the gene associated with STGD3 shared sequence homologies with genes involved in FA elongation ( 37,38 ) Abbreviations: AOX, acyl-CoA oxidase; DHA or 22:6n3, docosahexaenoic acid; ELOVL, elongation of very long-chain FA; ELOVL4, elongation of very long-chain FA-4; ERG, electroretinogram; LC-PUFA, long-chain PUFA; PC, phosphatidylcholine; ROS, retinal outer segments; RPE, retinal pigment epithelium; STGD1, recessive Stargardt degeneration; STGD3, autosomal dominant Stargardt-like macular dystrophy; VLC-FA, very long-chain saturated or monounsaturated FA; VLC-PUFA, very long-chain PUFA.

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“…Interest in the catabolism of branched-chain fatty acids has been revived by the observation that phytanic acid (Poulos et al, 1984) as well as pristanic acid (Poulos et al, 1988) may accumulate in the sera of patients with deficient peroxisome assembly.…”

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confidence: 99%

Purification and properties of an α‐methylacyl‐CoA racemase from rat liver

Schmitz

Fingerhut

Conzelmann

1994

European Journal of Biochemistry

106

134

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The (R)-and (S)-isomers of a-methyl-branched fatty acids were shown to be rapidly interconverted as coenzyme A thioesters, by an a-methylacyl-CoA racemase. The enzyme was purified some 5600-fold from rat liver, to apparent homogeneity. It is a monomer of 45 kDa with an isolectric point of pH 6.1 and is optimally active between pH 6 and pH 7. It acts only on coenzyme A thioesters, not on free fatty acids, and accepts as substrates a wide range of a-methylacyl-CoAs, including pristanoyl-CoA and trihydroxycoprostanoyl-CoA (an intermediate in bile acid synthesis), but neither 3-methyl-branched nor linear-chain acyl-CoAs. The racemase catalyzes a rapid exchange of the H atom in the a-position of the fatty acid against a proton from water, indicating that the mechanism involves abstraction of a proton. Based on this observation, a very sensitive and convenient radiometric assay, with 2-methy1[2-3H]acyl-CoAs as substrates, was developed. The enzyme was inactivated by micromolar concentrations of Hg2' and to a lesser extent by Cu2+ but not by iodoacetamide and only slightly by N-ethylmaleimide and thimerosal.

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Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction

Cited by 66 publications

References 32 publications

The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency

The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency

Retinal very long-chain PUFAs: new insights from studies on ELOVL4 protein

Purification and properties of an α‐methylacyl‐CoA racemase from rat liver

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