Refsum disease: Difference between revisions
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'''Refsum |
'''Refsum disease''', also known as '''adult''' or '''classic Refsum disease''', '''heredopathia atactica polyneuritiformis''' and '''phytanic acid storage disease''',<ref name=omim>{{OMIM|266500}}</ref><ref name="Fitz2">{{cite book |author=Freedberg, et al. |year=2003 |title=Fitzpatrick's Dermatology in General Medicine (6th ed.) |publisher=McGraw-Hill |isbn=0071380760 |page=499}}</ref><ref name="Andrews">{{cite book |author=James, William; Berger, Timothy; Elston, Dirk |year=2005 |title=Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.) |publisher=Saunders |isbn=0721629210 |page=564}}</ref><ref name="Bolognia">{{cite book |author=Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages= |isbn=1-4160-2999-0 |oclc= |doi= |accessdate=}}</ref> is an [[autosome|autosomal]] [[dominance (genetics)|recessive]]<ref name=rdar>{{cite pmid|18336720}}</ref> neurological disease that results in the malformation of [[myelin]] sheaths around [[neuron|nerve cells]]. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991).<ref>{{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}}</ref><ref>{{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}}</ref> It is also considered to be a [[peroxisomal disorder]] and one of a family of disorders called [[leukodystrophies]]. |
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==Characteristics== |
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| ⚫ | Individuals with Refsum 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. |
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==Cause== |
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==Presentation== |
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==Treatment== |
==Treatment== |
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{{DEFAULTSORT:Refsum's Disease}} |
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[[Category:Inborn errors of metabolism]] |
[[Category:Inborn errors of metabolism]] |
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[[Category:Autosomal recessive disorders]] |
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[[Category:Rare dieases]] |
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[[Category:Genodermatoses]] |
[[Category:Genodermatoses]] |
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[[Category:Neurodegenerative disorders]] |
[[Category:Neurodegenerative disorders]] |
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Revision as of 05:47, 17 July 2010
| Refsum disease | |
|---|---|
| Specialty | Neurology  |
Refsum disease, also known as adult or classic Refsum disease, heredopathia atactica polyneuritiformis and phytanic acid storage disease,[1][2][3][4] is an autosomal recessive[5] neurological disease that results in the malformation of myelin sheaths around nerve cells. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991).[6][7] It is also considered to be a peroxisomal disorder and one of a family of disorders called leukodystrophies.
Characteristics
Individuals with Refsum 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.
Cause
Refsum 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).
Treatment
The most effective therapy in the classic Refsum disease is dietary treatment with a phytanic acid-restricted diet, such as exclusively avoiding green plants and to a lesser extent, consumption of fatty animal tissues from beef, lamb, and fatty fish such as tuna, cod, and haddock [8]. Recent research has shown that CYP4 isoform enzymes could eliminate the phytanic acid storage in vivo [9] 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 [10], [11], [12]. Currently, there is no clinical data to approve using this xenonbiotic drug for the treatment, perhaps due to its serious adverse effect [13] 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 due to the composition of starch and the chemical and molecular breakdown of fatty acids refsum's disease can be treated by creating glucose in an excess amount
See also
External links
References
- ^ Online Mendelian Inheritance in Man (OMIM): 266500
- ^ Freedberg; et al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 499. ISBN 0071380760.
{{cite book}}: Explicit use of et al. in:|author=(help) - ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 564. ISBN 0721629210.
{{cite book}}: CS1 maint: multiple names: authors list (link) - ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
{{cite book}}: CS1 maint: multiple names: authors list (link) - ^ Attention: This template ({{cite pmid}}) is deprecated. To cite the publication identified by PMID 18336720, please use {{cite journal}} with
|pmid=18336720instead. - ^ Refsum S (1945). "Heredoataxia hemeralopica polyneuritiformis - et tidligere ikke beskrevet familiært syndrom? En foreløbig meddelelse". Nordisk Medicin (in Norwegian). 28: 2682–6.
- ^ 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.
- ^ National Institutes of Health. "Synonym(s): Phytanic Acid Storage Disease, Heredopathia Atactica Polyneuritiformis <Internet>". Retrieved 8 July 2007.
- ^ 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. doi:10.1124/jpet.106.104976. PMID 16707724.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Snyder MJ (1998). "Cytochrome P450 enzymes belonging to the CYP4 family from marine invertebrates". Biochem. Biophys. Res. Commun. 249 (1): 187–90. doi:10.1006/bbrc.1998.9104. PMID 9705854.
- ^ 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. doi:10.1016/j.cbpc.2006.04.001. PMID 16769251.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ 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. doi:10.1093/toxsci/kfh126. PMID 15056802.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ "Atromid-S: Indication & Dosage <Internet>". Retrieved 11 July 2007.