Literature DB >> 6157716

Heredopathia atactica polyneuritiformis (Refsum's disease): 1. Clinical features and dietary management.

A Masters-Thomas, J Bailes, J D Billimoria, M E Clemens, F B Gibberd, N G Page.   

Abstract

In a patient with Refsum's disease successful dietary control of the disease has been shown to depend on adequate energy and protein intake from phytanic acid-free sources and restriction of dietary phytanic acid to a maximum of 10 mg per day, with the provision of a generous amount of the essential fatty acid, linoleic acid. The present work gives data on the phytanic-acid content of various foodstuffs and suggests dietary manipulation of the patient. Although the role that chlorophyll-bound phytol plays in Refsum's disease is uncertain, it is advisable that this is eliminated until its role is more clearly identified.

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Year:  1980        PMID: 6157716     DOI: 10.3109/09637488009143444

Source DB:  PubMed          Journal:  J Hum Nutr        ISSN: 0308-4329


  10 in total

Review 1.  [Adult Refsum disease. A retinal dystrophy with therapeutic options].

Authors:  K Rüther
Journal:  Ophthalmologe       Date:  2005-08       Impact factor: 1.059

2.  The significance of plasma phytanic acid levels in adults.

Authors:  T C Britton; F B Gibberd; M E Clemens; J D Billimoria; M C Sidey
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-07       Impact factor: 10.154

3.  Screening of patients with retinitis pigmentosa for heredopathia atactica polyneuritiformis (Refsum's disease).

Authors:  J M Goldman; M E Clemens; F B Gibberd; J D Billimoria
Journal:  Br Med J (Clin Res Ed)       Date:  1985-04-13

4.  Phytanic acid disturbs mitochondrial homeostasis in heart of young rats: a possible pathomechanism of cardiomyopathy in Refsum disease.

Authors:  Mateus Grings; Anelise Miotti Tonin; Lisiane Aurélio Knebel; Angela Zanatta; Alana Pimentel Moura; Carlos Severo Dutra Filho; Moacir Wajner; Guilhian Leipnitz
Journal:  Mol Cell Biochem       Date:  2012-04-15       Impact factor: 3.396

5.  Marked inhibition of Na+, K(+)- ATPase activity and the respiratory chain by phytanic acid in cerebellum from young rats: possible underlying mechanisms of cerebellar ataxia in Refsum disease.

Authors:  Estela Natacha Brandt Busanello; Ângela Zanatta; Anelise Miotti Tonin; Carolina Maso Viegas; Carmen Regla Vargas; Guilhian Leipnitz; César Augusto João Ribeiro; Moacir Wajner
Journal:  J Bioenerg Biomembr       Date:  2012-11-15       Impact factor: 2.945

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

Authors:  E F Robertson; A Poulos; P Sharp; J Manson; G Wise; A Jaunzems; R Carter
Journal:  Eur J Pediatr       Date:  1988-02       Impact factor: 3.183

7.  Disruption of mitochondrial homeostasis by phytanic acid in cerebellum of young rats.

Authors:  Estela Natacha Brandt Busanello; Alexandre Umpierrez Amaral; Anelise Miotti Tonin; Angela Zanatta; Carolina Maso Viegas; Carmen Regla Vargas; Moacir Wajner
Journal:  Cerebellum       Date:  2013-06       Impact factor: 3.847

8.  Ataxia with loss of Purkinje cells in a mouse model for Refsum disease.

Authors:  Sacha Ferdinandusse; Anna W M Zomer; Jasper C Komen; Christina E van den Brink; Melissa Thanos; Frank P T Hamers; Ronald J A Wanders; Paul T van der Saag; Bwee Tien Poll-The; Pedro Brites
Journal:  Proc Natl Acad Sci U S A       Date:  2008-11-11       Impact factor: 11.205

9.  Patterns of Refsum's disease. Phytanic acid oxidase deficiency.

Authors:  A Poulos; A C Pollard; J D Mitchell; G Wise; G Mortimer
Journal:  Arch Dis Child       Date:  1984-03       Impact factor: 3.791

10.  Phytyl fatty acid esters in vegetables pose a risk for patients suffering from Refsum's disease.

Authors:  Stephanie Krauß; Lea Michaelis; Walter Vetter
Journal:  PLoS One       Date:  2017-11-13       Impact factor: 3.240

  10 in total

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