Refsum's disease

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 = D012035

Refsum'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 a peroxisomal disorder.

Causes

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).

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 that CYP4 isoform enzymes could eliminate the phytanic acid storage in 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 marine invertebrates 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 the plasmapheresis.

Reaction

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

ee also

*The Myelin Project

References


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Look at other dictionaries:

  • Refsum's disease — noun A peroxisomal neurological disease that results in the malformation of myelin sheaths around nerve cells. Syn: Refsum Thiébaut disease, Refsum Thiébaut Klenk Kahlke disease, Heredopathia atactica polyneuritiformis …   Wiktionary

  • Refsum's disease — Ref·sum s disease ref səmz n an autosomal recessive lipidosis characterized by faulty metabolism of phytanic acid resulting in its accumulation in the blood, retinitis pigmentosa, ataxia, deafness, and mental retardation Ref·sum ref su̇m Sigvald… …   Medical dictionary

  • Refsum's disease — an inherited disorder of lipid metabolism resulting in abnormal accumulation of phytanic acid (a fatty acid) in body tissues. This results in a peripheral neuropathy affecting the sensory and motor nerves, diminishing vision due to retinitis… …   The new mediacal dictionary

  • Refsum’s disease — A genetic disorder affecting metabolism of the fatty acid phytanic acid. When phytanic acid accumulates, it causes a number of progressive problems, including inflammation of numerous nerves (polyneuritis), diminishing vision due to retinitis… …   Medical dictionary

  • Disease, phytanic acid storage (Refsum’s disease) — A genetic disorder of the fatty acid phytanic acid which accumulates and causes a number of progressive problems including polyneuritis (inflammation of numerous nerves), diminishing vision (due to retinitis pigmentosa), and wobbliness (ataxia)… …   Medical dictionary

  • Refsum disease — Classification and external resources Phytanic acid ICD 10 G60.1 …   Wikipedia

  • Refsum-Thiebaut-Krankheit — Klassifikation nach ICD 10 G60.1 Refsum Krankheit …   Deutsch Wikipedia

  • Refsum-Thiébaut-Krankheit — Klassifikation nach ICD 10 G60.1 Refsum Krankheit …   Deutsch Wikipedia

  • Refsum-Syndrom — Klassifikation nach ICD 10 G60.1 Refsum Krankheit …   Deutsch Wikipedia

  • Refsum's syndrome — Refsum Disease (also called Refsum s Syndrome) is a genetic disorder that primarily affects the nervous system with a series of debilitating symptoms. Some symptoms include: degenerative nerve disease (peripheral neuropathy); vision loss… …   Wikipedia

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