Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years

Robertson, Evelyn F.; Poulos, A.; Sharp, P.; Manson, Jo Ann E.; Wise, G.; Jaunzems, Alvis E.; Carter, R.

doi:10.1007/bf00442210

Cited by 40 publications

(11 citation statements)

References 37 publications

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“…This led to persistent plasma phytanic acid level normalization after the onset of the dietary regimen. Similar biochemical results were previously reported in few patients with IRD treated with a low phytanic acid diet (Robertson et al 1988;Pakzad-Vaezi and Maberley 2014). However, the long-term clinical benefit of this approach remains to be elucidated.…”

Section: Discussionsupporting

confidence: 90%

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Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels

et al. 2015

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Infantile Refsum disease (IRD) is one of the less severe of Zellweger spectrum disorders (ZSDs), a group of peroxisomal biogenesis disorders resulting from a generalized peroxisomal function impairment. Increased plasma levels of very long chain fatty acids (VLCFA) and phytanic acid are biomarkers used in IRD diagnosis. Furthermore, an increased plasma level of phytanic acid is known to be associated with neurologic damage. Treatment of IRD is symptomatic and multidisciplinary.The authors report a 3-year-old child, born from consanguineous parents, who presented with developmental delay, retinitis pigmentosa, sensorineural deafness and craniofacial dysmorphisms. While the relative level of plasma C26:0 was slightly increased, other VLCFA were normal.

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Section: Discussionsupporting

confidence: 90%

“…Reports of treatment impact in disease progression are limited. However, sporadically reports have showed that changes in diet lead to specific biochemical effects (Robertson et al 1988;Moser et al 1999).…”

Section: Introductionmentioning

confidence: 99%

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels

et al. 2015

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“…Fatty acid methyl esters were prepared from the total lipid extracts of plasma and hexacosanoate: docosanoate (C26: C22) fatty acid ratios were determined as described by Berkovic et al [4] except for the substitution of a non-polar (12m x 0.32 mm i.d., 1 u phase thickness) BP-1 fused silica capillary column for the SCOT column used earlier. Phytanic acid was measured by gas-liquid chromatography on a bonded-phase OV-225 fused silica capillary column as described by Robertson et al [22]. Pristanic acid levels were determined using the same procedure.…”

Section: Methodsmentioning

confidence: 99%

“…Finally, the patients to whom we have assigned a diagnosis of infantile Refsum disease were less affected clinically than those with neonatal ALD showing only very mild dysmorphia and an absence of seizures. Liver biopsies showed characteristic trilaminar inclusions [26] and both patients responded biochemically and clinically to dietary therapy [22].…”

Section: Patientsmentioning

confidence: 98%

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

et al. 1988

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The plasma of some patients with biochemical evidence of a generalised peroxisomal dysfunction (GPD) show greatly increased levels of phytanic acid as well as its alpha-oxidation product, pristanic acid (2, 6, 10, 14-tetramethylpentadecanoic acid). Increased amounts of 14- and 16- carbon branched chain fatty acids are also found in some of these patients. As pristanic acid is present in normal or near-normal amounts in classical Refsum disease and rhizomelic chondrodysplasia, two disorders characterised by deficiencies in phytanic acid oxidation, we speculate that its accumulation is not secondary to a defect in the alpha-oxidation of phytanic acid, but is indicative of a block in the peroxisomal beta-oxidation of pristanic acid. The finding of phytanic acid, as well as a number of its metabolites in patients with inherited defects in peroxisomal biogenesis indicates that a number of the steps in phytanic acid degradation may be confined to peroxisomes.

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“…A therapeutic re#me, consisting of a reduced intake of VLCFAs and phytanic acid plus administration of alkylglycerol to try and normalize plasmalogen levels, is at present being tried by Greenberg et al (1987) in mildly affected Zellweger patients. Robertson et al (1988) recently reported on 2 patients with infantile Refsum disease who were treated with a diet low in phytanic acid for 2 years. Some beneficial effect was noted.…”

Section: Therapy In Peroxisomal Disordersmentioning

confidence: 99%

Peroxisomal disorders in neurology

Wanders

Heymans

Schutgens

et al. 1988

Journal of the Neurological Sciences

171

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SUMMARYAlthough peroxisomes were initially believed to play only a minor role in mammalian metabolism, it is now clear that they catalyse essential reactions in a number of different metabolic pathways and thus play an indispensable role in intermediary metabolism. The metabolic pathways in which peroxisomes are involved include the biosynthesis of ether phospholipids and bile acids, the oxidation of very long chain fatty acids, prostaglandins and unsaturated long chain fatty acids and the catabolism of phytanate and (in man) pipecolate and glyoxylate.The importance of peroxisomes in cellular metabolism is stressed by the existence of a group of inherited diseases, the peroxisomal disorders, caused by an impairment in one or more peroxisomal functions. In the last decade our knowledge about peroxisomes and peroxisomal disorders has progressed enormously and has been the subject of several reviews. New developments include the identification of several additional peroxisomal disorders, the discovery of the primary defect in several of these peroxisomal disorders, the recognition of novel peroxisomal functions and the application of complementation analysis to obtain information on the genetic relationship between the different peroxisomal disorders.The peroxisomal disorders recognized at present comprise 12 different diseases, with neurological involvement in 10 of them. These diseases include: (1) those in which peroxisomes are virtually absent leading to a generalized impairment of peroxisomal functions (the cerebro-hepato-renal syndrome of Zellweger, neonatal adrenoleukodystrophy, infantile Refsum disease and hyperpipecolic acidaemia); (2) those in which peroxisomes are present and several peroxisomal functions are impaired (the rhizomelic form of chondrodysplasia punctata, combined peroxisomal fl-oxidation enzyme protein deficiency); and (3)those in which peroxisomes are present and only a single peroxisomal function is impaired (X-linked adrenoleukodystrophy, peroxisomal thiolase deficiency (pseudo-Zellweger syndrome), acyl-CoA oxidase deficiency (pseudoneonatal adrenoleukodystrophy) and probably, the classic form of Refsum disease.

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Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years

Cited by 40 publications

References 37 publications

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels

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

Peroxisomal disorders in neurology

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