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

2015 ◽  
pp. 53-60 ◽  
Author(s):  
Maria João Nabais Sá ◽  
Júlio C. Rocha ◽  
Manuela F. Almeida ◽  
Carla Carmona ◽  
Esmeralda Martins ◽  
...  
Keyword(s):  
Phytanic Acid ◽  
Dietary Treatment ◽  
Refsum Disease ◽  
Infantile Refsum Disease

scholarly journals Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Omar Elghawy ◽  
Alice Y. Zhang ◽  
Ryan Duong ◽  
William G. Wilson ◽  
Eugene Y. Shildkrot
Keyword(s):  
Hearing Loss ◽  
Docosahexaenoic Acid ◽  
Retinitis Pigmentosa ◽  
Sensorineural Hearing Loss ◽  
Cholic Acid ◽  
Phytanic Acid ◽  
Sensorineural Hearing ◽  
Refsum Disease ◽  
Restricted Diet ◽  
Infantile Refsum Disease

Infantile Refsum disease is a rare peroxisomal biogenesis disorder characterized by impaired alpha-oxidation and accumulation of phytanic acid in the tissues. Patients often present with fundus changes resembling retinitis pigmentosa, developmental delay, sensorineural hearing loss, ataxia, and hepatomegaly. Traditionally, mainstay treatment for this condition has been a phytanic acid-restricted diet, although supplementation with either docosahexaenoic acid or cholic acid has rarely been described in the literature. We present a case of infantile Refsum disease in a child with retinitis pigmentosa-like ocular findings, sensorineural hearing loss, and self-resolving hepatic disease, who developed novel findings of macular edema refractory to carbonic anhydrase inhibitors. We describe management with a phytanic acid-restricted diet and combination docosahexaenoic acid, and cholic acid therapy, which helped to limit progression of her disease.

Autopsy findings in two siblings with infantile Refsum disease

1992 ◽  
Vol 83 (2) ◽  
pp. 190-195 ◽  
Author(s):  
C. W. Chow ◽  
A. Poulos ◽  
A. J. Fellenberg ◽  
J. Christodoulou ◽  
D. M. Danks
Keyword(s):  
Refsum Disease ◽  
Autopsy Findings ◽  
Infantile Refsum Disease

Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease

2001 ◽  
Vol 101 (6) ◽  
pp. 697-705 ◽  
Author(s):  
S.P. YOUNG ◽  
A.W. JOHNSON ◽  
D.P.R. MULLER
Keyword(s):  
Vitamin E ◽  
Phytanic Acid ◽  
Retinal Cell ◽  
Physical Parameters ◽  
Refsum Disease ◽  
Membrane Composition ◽  
Complex Situation ◽  
Retinal Cells ◽  
Membrane Function

Adult Refsum disease is an inherited disorder in which phytanic acid accumulates in tissues and serum. Two hypotheses have been proposed to explain the pathogenesis of this condition. The molecular distortion hypothesis suggests that phytanic acid may alter membrane composition and structure, thereby affecting membrane function(s). The anti-metabolite hypothesis suggests that an accumulation of phytanic acid in membranes may interfere with vitamin E function. These two hypotheses were investigated by studying the effects of modulating phytanic acid and α-tocopherol concentrations on the fatty acid composition and certain physical parameters of cultured retinal cells. Results showed that (a) the phospholipid fraction of retinal cells readily incorporated phytanic acid, (b) the incorporation of phytanic acid increased membrane fluidity, (c) there was no competition for uptake between phytanic acid and α-tocopherol, and (d) the incorporation of phytanic acid did not increase the susceptibility of membranes to lipid peroxidation in vitro. These results obtained with cultured retinal cells suggest that the molecular distortion hypothesis, but not the anti-metabolite hypothesis, could explain the pathogenesis of adult Refsum disease. In vitro tissue culture models can, however, only approximate to the much more complex situation that occurs in vivo.

Hepatic peroxisomes are deficient in infantile refsum disease: A cytochemical study of 4 cases

1986 ◽  
Vol 25 (2) ◽  
pp. 257-271 ◽  
Author(s):  
Frank Roels ◽  
Alfons Cornelis ◽  
Bwee Tien Poll-The ◽  
Patrick Aubourg ◽  
Helène Ogier ◽  
...  
Keyword(s):  
Refsum Disease ◽  
Cytochemical Study ◽  
Infantile Refsum Disease
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