- Refsum's disease
Infobox_Disease
Name = PAGENAME
Caption =Phytanic acid
DiseasesDB = 11213
ICD10 = ICD10|G|60|1|g|60
ICD9 = ICD9|356.3
ICDO =
OMIM = 266500
MedlinePlus =
eMedicineSubj = derm
eMedicineTopic = 705
MeshID = D012035Refsum's disease (Refsum-Thiébaut disease, Refsum-Thiébaut-Klenk-Kahlke disease), named after Norwegian neurologist Sigvald Bernhard Refsum (1907-1991), [cite journal |author=Refsum S |title=Heredoataxia hemeralopica polyneuritiformis - et tidligere ikke beskrevet familiært syndrom? En foreløbig meddelelse |journal=Nordisk Medicin |volume=28 |issue= |pages=2682–6 |year=1945 |language=Norwegian] [cite journal |author=Refsum S |title=Heredopathia atactica polyneuritiformis. A familial syndrome not hitherto described. A contribution to the clinical study of hereditary diseases of the nervous system |journal=Acta psych. neur. |volume= |issue=Suppl.38 |pages=1–303 |year=1946] is neurological disease that results in the malformation of
myelin sheaths around nerve cells. It is aperoxisomal disorder .Causes
Refsum's disease is caused by faulty enzymes during the alpha-oxidation of
phytanic acid resulting in buildup ofphytanic acid and itsunsaturated fatty acid derivatives in the plasma and tissues.This in turn can be due to deficiencies of
phytanoyl-CoA hydroxylase (chromosome 10 ) orperoxin-7 (chromosome 6 ).Presentation
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.
Treatment
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 cite web | last =National Institutes of Health | first = | title =Synonym(s): Phytanic Acid Storage Disease, Heredopathia Atactica Polyneuritiformis
| url=http://www.ninds.nih.gov/disorders/refsum/refsum.htm | accessdate=8 July | accessyear=2007 ] . Recent research has shown thatCYP4 isoform enzymes could eliminate the phytanic acid storagein vivo cite journal |author=Xu F, Ng VY, Kroetz DL, de Montellano PR |title=CYP4 isoform specificity in the omega-hydroxylation of phytanic acid, a potential route to elimination of the causative agent of Refsum's disease |journal=J. Pharmacol. Exp. Ther. |volume=318 |issue=2 |pages=835–9 |year=2006 |pmid=16707724 |doi=10.1124/jpet.106.104976 |url=http://jpet.aspetjournals.org/cgi/content/abstract/318/2/835] and patients could try alternative natural remedies with either eatable marineinvertebrates or with clofibrate supplement of which the component is usually rich in the excretion of high plant cite journal |author=Snyder MJ |title=Cytochrome P450 enzymes belonging to the CYP4 family from marine invertebrates |journal=Biochem. Biophys. Res. Commun. |volume=249 |issue=1 |pages=187–90 |year=1998 |pmid=9705854 |doi=10.1006/bbrc.1998.9104 |url=] , cite journal |author=Rewitz KF, Styrishave B, Løbner-Olsen A, Andersen O |title=Marine invertebrate cytochrome P450: emerging insights from vertebrate and insects analogies |journal=Comp. Biochem. Physiol. C Toxicol. Pharmacol. |volume=143 |issue=4 |pages=363–81 |year=2006 |pmid=16769251 |doi=10.1016/j.cbpc.2006.04.001 |url=] , cite journal |author=Raucy JL, Lasker J, Ozaki K, Zoleta V |title=Regulation of CYP2E1 by ethanol and palmitic acid and CYP4A11 by clofibrate in primary cultures of human hepatocytes |journal=Toxicol. Sci. |volume=79 |issue=2 |pages=233–41 |year=2004 |pmid=15056802 |doi=10.1093/toxsci/kfh126 |url=http://toxsci.oxfordjournals.org/cgi/content/abstract/79/2/233] . Currently, there is no clinical data to approve using this xenonbiotic drug for the treatment, perhaps due to its serious adverse effect cite web | last = | first = | title =Atromid-S: Indication & Dosage| url=http://www.rxlist.com/cgi/generic/clofibrate_ids.htm | accessdate=11 July | accessyear=2007 ] and the major medical treatment of the disease only relies on theplasmapheresis .Reaction
Phytol (from chlorophyll in plant foods) --->
phytanic acid -x->pristanic acid --->propionyl CoA ee also
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The Myelin Project References
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