Lipapheresis: an immunoglobulin-sparing treatment for Refsum's disease

Gutsche, Horst; Siegmund, Joachim B.; Hoppmann, I

doi:10.1111/j.1600-0404.1996.tb07051.x

Cited by 34 publications

(9 citation statements)

References 7 publications

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“…In addition the classical presentation with phytanic acidemia may not be exclusive, as one family with offspring affected with a ÔRefsum-likeÕ syndrome has been described in which other subjects had signs of leukodystrophy, intellectual impairment and the co-occurrence of pipecolic academia (OMIM 600964) (Tranchant et al 1993). The disease is treated symptomatically by the restriction of phytanic acid intake in the diet or by its elimination by plasmapheresis or lipid apheresis (Gibberd et al 1979;Moser et al 1980;Gutsche et al 1996). These regimes reduce plasma phytanic acid levels by 50-70% to values typically around 100-300 lmol/L.…”

Section: Clinical Signs and Symptomsmentioning

confidence: 99%

Refsum's disease: a peroxisomal disorder affecting phytanic acid α‐oxidation

Wierzbicki

Lloyd

Schofield³

et al. 2002

Journal of Neurochemistry

176

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Refsum's disease (hereditary motor sensory neuropathy type IV, heredopathia atactica polyneuritiformis) is an autosomal recessive disorder the clinical features of which include retinitis pigmentosa, blindness, anosmia, deafness, sensory neuropathy, ataxia and accumulation of phytanic acid in plasma-and lipid-containing tissues. The transport and biochemical pathways of phytanic acid metabolism have recently been defined with the cloning of two key enzymes, phytanoylCoA 2-hydroxylase (PAHX) and 2-hydroxyphytanoyl-CoA lyase, together with the confirmation of their localization in peroxisomes. PAHX, an iron(II) and 2-oxoglutarate-dependent oxygenase is located on chromosome 10p13. Mutant forms of PAHX have been shown to be responsible for some, but not all, cases of Refsum's disease. Certain cases have been shown to be atypical mild variants of rhizomelic chondrodysplasia punctata type 1a. Other atypical cases with lowplasma phytanic acid may be caused by a-methylacyl-CoA racemase deficiency. A sterol-carrier protein-2 (SCP-2) knockout mouse model shares a similar clinical phenotype to Refsum's disease, but no mutations in SCP-2 have been described to-date in man. This review describes the clinical, biochemical and metabolic features of Refsum's disease and shows how the biochemistry of the a-oxidation pathway may be linked to the regulation of metabolic pathways controlled by isoprenoid lipids, involving calcineurin or the peroxisomal proliferator activating a-receptor.

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Section: Clinical Signs and Symptomsmentioning

confidence: 99%

Refsum's disease: a peroxisomal disorder affecting phytanic acid α‐oxidation

Wierzbicki

Lloyd

Schofield³

et al. 2002

Journal of Neurochemistry

176

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“…Though questionable, some patients may respond to black cumin oil (nigella sativa) [16]. Helpful for acute manifestations may be plasmapheresis, membrane differential filtration [16], lipapheresis [17], cascade filtration [17], or liver transplantation [18].…”

Section: Discussionmentioning

confidence: 99%

Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa

Finsterer

Regelsberger

Voigtländer

2008

Journal of the Neurological Sciences

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“…catabolism of endogenous fat can increase plasma phytanic acid levels acutely and cause clinical exacerbations. 443 Apheresis is probably most appropriate for patients who have very high plasma phytanate levels, particularly those with exacerbation of symptoms. 442 Selective lipoprotein depletion is also effective.…”

Section: Table 55-10 Selective Extraction Methods For Lipoproteinsmentioning

confidence: 99%