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Refsum's disease
ICD-10 G601
ICD-9 356.3
OMIM 266500
DiseasesDB 11213
MedlinePlus [1]
eMedicine derm/705
MeSH {{{MeshNumber}}}

Refsum's disease (Refsum-Thiébaut disease, Refsum-Thiébaut-Klenk-Kahlke disease), named after Norwegian neurologist Sigvald Bernhard Refsum (1907-1991),[1][2] is neurological disease that results in the malformation of myelin sheaths around nerve cells. It is a peroxisomal disorder.


Refsum's disease is caused by faulty enzymes during the alpha-oxidation of phytanic acid resulting in buildup of phytanic acid and its unsaturated fatty acid derivatives in the plasma and tissues.

This in turn can be due to deficiencies of phytanoyl-CoA hydroxylase (chromosome 10) or peroxin-7 (chromosome 6).


Patients with Refsum's Disease present with neurologic damage, cerebellar degeneration, and peripheral neuropathy. Onset is most commonly in childhood/adolescence with a progressive course, although periods of stagnation/remission occur. Symptoms also include night blindness, ataxia, scaly skin (ichthyosis), difficulty hearing, and eye problems including cataracts.


The most effective therapy in the classic Refsum disease is dietary treatment with a phytanic acid-restricted diet, such as exclusively avoiding consumption of beef, lamb, fatty fish such as tuna, cod, and haddock [3]. Recent research has shown that CYP4 isoform enzymes could eliminate the phytanic acid storage in vivo [4] and patients could try alternative natural remedies with either eatable marine invertebrates or with clofibrate supplement of which the component is usually rich in the excretion of high plant [5], [6], [7]. Currently, there is no clinical data to approve using this xenonbiotic drug for the treatment, perhaps due to its serious adverse effect [8]and the major medical treatment of the disease only relies on the plasmapheresis.


Phytol (from chlorophyll in plant foods) ---> phytanic acid -x-> pristanic acid ---> propionyl CoA

See also


  1. Refsum S (1945). Heredoataxia hemeralopica polyneuritiformis - et tidligere ikke beskrevet familiært syndrom? En foreløbig meddelelse. Nordisk Medicin 28: 2682–6.
  2. Refsum S (1946). Heredopathia atactica polyneuritiformis. A familial syndrome not hitherto described. A contribution to the clinical study of hereditary diseases of the nervous system. Acta psych. neur. (Suppl.38): 1–303.
  3. National Institutes of Health Synonym(s): Phytanic Acid Storage Disease, Heredopathia Atactica Polyneuritiformis <Internet>. URL accessed on 8 July, 2007.
  4. Xu F, Ng VY, Kroetz DL, de Montellano PR (2006). CYP4 isoform specificity in the omega-hydroxylation of phytanic acid, a potential route to elimination of the causative agent of Refsum's disease. J. Pharmacol. Exp. Ther. 318 (2): 835–9.
  5. Snyder MJ (1998). Cytochrome P450 enzymes belonging to the CYP4 family from marine invertebrates. Biochem. Biophys. Res. Commun. 249 (1): 187–90.
  6. Rewitz KF, Styrishave B, Løbner-Olsen A, Andersen O (2006). Marine invertebrate cytochrome P450: emerging insights from vertebrate and insects analogies. Comp. Biochem. Physiol. C Toxicol. Pharmacol. 143 (4): 363–81.
  7. Raucy JL, Lasker J, Ozaki K, Zoleta V (2004). Regulation of CYP2E1 by ethanol and palmitic acid and CYP4A11 by clofibrate in primary cultures of human hepatocytes. Toxicol. Sci. 79 (2): 233–41.
  8. Atromid-S: Indication & Dosage <Internet>. URL accessed on 11 July, 2007.

Template:Peroxisomal disorders

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