Clinically, these patients have mental retardation, pigmentary retinopathy, sensorineural deafness, dysmorphic features, hepatomegaly and may have a peripheral neuropathy. A revised and updated directory for the internet agejames n. Wanders, ronald ja, hans r waterham, and bart leroy. Techniques in diagnostic human biochemical genetics. Pdf infantile refsum disease is a rare inborn error of phytanic acid metabolism. Midlife diagnosis of refsum disease in siblings with. Plasma exchange is indicated in refsum s disease when there is a worsening clinical condition. Pdf phytanoylcoenzyme a hydroxylase deficiency the. Refsums disease refsumthiebaut disease, refsumthiebautklenkkahlke disease, named after norwegian neurologist sigvald bernhard refsum 19071991, is neurological disease that results in the malformation of myelin sheaths around nerve cells. This section of the website looks in detail at how you can use diet as part of your treatment for adult refsums disease, starting by asking why diet is important for refsums disease patients. May 23, 2019 refsum disease is a recessive disorder characterized by defective peroxisomal alphaoxidation of phytanic acid.
Refsum disease heredopathia atactica polyneuritiformis was first described in 1946 and is a rare recessively inherited metabolic disease affecting phytanic acid metabolism. Letter to the editor open access high prevalence of primary. It is inherited in an autosomal recessive manner and frequently. National guidelines give 21 units of alcohol per week for a. Pediatric neurology features uptotheminute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. Home april 1985 volume 7 issue 2 a mnemonic for refsums disease article tools. Pdf refsum disease was first recognized as a distinct disease entity by sigvald refsum in the 1940s. Infantile refsum disease information page national. Information for patients, their families and helpers diet as a treatment for adult refsums disease. He has recently been complaining of numb feet, scaly, itchy skin and deteriorating vision. We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. Cascade filtration in refsums disease nephrology dialysis. While the clinical picture is reminiscent of refsum disease, affected individuals have normal phytanic and pristanic acid levels in plasma, as well as normal enzymatic activity for. Thank you for your interest in spreading the word about the bmj.
Refsum s disease is a rare, autosomal recessive neurometabolic disease, characterised biochemically by accumulation of phytanic acid in blood and tissues. This chapter presents the answers to the questions raised on refsum s disease, explained with reference to the case of alan, who was diagnosed with retinitis pigmentosa. Phytanoylcoenzyme a hydroxylase deficiency the enzyme defect in refsums disease article pdf available in new england journal of medicine 3372. Nov 04, 2016 refsum disease its a genetical disorder which is autosomal recessive phytanoylcoahydroxylase is the enzyme location of this enzyme is chromosome 10p slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Since adult refsum s disease also affects the nervous system, alcohol should be kept to a minimum. Refsum s disease is caused by defective alpha oxidation of phytanic acid 3,7,11,15 tetramethylhexadecanoic acid, a branched. Lowering the plasma phytanic acid by plasma exchange in patients acutely ill with refsum s disease produced clinical improvement.
Patients suffering from refsums disease show mutations in the enzyme necessary for the degradation of phytanic acid. Vlcfas have deleterious effects on membrane structure and function, increasing microviscosity of rbc membranes and impairing the capacity of cultured adrenal cells to respond to adrenocorticotropic hormone acth. Reviews in medicine, alan sugar, editor the peroxisome and the eye steve j. Long term treatment preserves sensory nerve action potentials and motor function 2 find, read and cite all the research you. Onset of symptoms ranges from 7 months to greater than 50 years of age. We present the cases of two brothers with a diagnosis of retinitis pigmentosa from childhood in whom refsum disease was subsequently diagnosed midlife, after. Refsum s disease is an inherited metabolic disorder in which a metabolite of branched chain fatty acids accumulates due to lack of appropriate oxidative enzymes. Besides retinal degeneration or retinal dystrophy associated with adult onset.
Refsum disease is an autosomal recessive neurological disease that results in the overaccumulation of phytanic acid in cells and tissues. Phytanoylcoenzyme a hydroxylase deficiency the enzyme. Patients have elevated plasma phytanic acid levels and high concentrations of phytanic acid in a variety of tissues leading to progressive tissue damage. Infantile refsum s disease, neonatal ald and zellweger syndrome are considered to be a disease continuum. Alans blood biochemistry is normal apart from a plasma phytanic acid level of 850 moll. Occasionally, failure of dietary control of refsum s disease may necessitate plasma exchange. A novel refsumlike disorder that maps to chromosome 20. Enable javascript to view the expandcollapse boxes. Refsum disease ronald ja wanders, hans r waterham, bart leroy, ra pagon, tc bird and 2 more published in 2015 in seattle wa usa by university of washington view online. Most zsd patients have disorders in the milder end of the spectrum and should be followup for symptomatic and supportive therapy. Refsum disease nord national organization for rare disorders. Ichthyosis is a disorder of cornification, characterised by persistently dry, thickened, fish scale skin.
The official parents sourcebook on moyamoya disease. Mar 27, 2019 infantile refsum disease ird is a medical condition within the zellweger spectrum of perixisome biogenesis disorders pbds, inherited genetic disorders that damage the white matter of the brain and affect motor movements. Mutations in the phyh gene have been found to cause more than 90 percent of all cases of refsum disease. Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations. The genes responsible for the failure in the metabolism of phytanic acid have been traced to the short arm of chromosome 10 10pterp11. Inherited types of ichthyosis may be congenital or have delayed onset. May 20, 2015 infantile refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, zellweger syndrome spectrum pbdzss.
Refsums diseaseuse of the intestinal lipase inhibitor. It is one of several disorders named after norwegian neurologist sigvald bernhard refsum 19071991. However, the results have so far not been translated to actual benefit for the patients in terms of treatment or diagnosis of agerelated degenerative diseases including those of the cns. Steve roach, in conjunction with the team of associate editors, heads an internationally recognized editorial board, ensuring the most authoritative and. Phytyl fatty acid esters in vegetables pose a risk for.
Adult refsums disease information for clinicians 4. Apr 01, 2015 in peroxisomal biogenesis disorders, abnormal accumulation of vlcfas c24, c26 is the hallmark of peroxisomal disorders. Refsum disease typically is adolescent onset and is diagnosed by above average levels of phytanic acid. Refsums disease in an arabian family journal of neurology. Pbdzss is a group of inherited genetic disorders that damage the white matter of the brain and affect motor movements.
The research on aging and agerelated diseases, especially the neurodegenerative diseases, is on the fast track. Therapeutic trial of plasmapheresis in refsum disease and in fabry disease. Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell anosmia, and a variety of other signs and symptoms the vision loss associated with refsum disease is caused by an eye disorder called retinitis pigmentosa. Moser hw, braine h, pyeritz re, ullman d, murray c, asbury ak. Heredopathia atactica polyneuritiformis refsums disease treated by diet and plasmaexchange. By continuing to use our website, you are agreeing to our use of cookies. Pbds are part of a larger group of disorders called the leukodystrophies. Adult refsums disease information for patients diet. Information for clinicians 4 clinical description 4a natural history. However, because the onset is insidious, it is difficult for many individuals to know exactly when symptoms first started. Refsums disease in an arabian family refsums disease is a rare, autosomal recessive neurometabolic disease, characterised biochemically by accumulation of phytanic acid in blood and tissues.
Symptoms of refsum disease may include vision impairment, degenerative nerve. Thus, patients with refsums disease have to follow a specific diet resigning foods with high levels of phytanic acid. About 30 mutations in this gene have been identified. Phytanoylcoenzyme a hydroxylase deficiency the enzyme defect in refsums disease. Pdf on jul 1, 1997, j s lou and others published refsums disease. These mutations alter the structure or production of phytanoylcoa hydroxylase, which reduces the enzymes activity.
Infantile refsum disease is the mildest of a group of disorders known as. Refsum disease, infantile form genetic and rare diseases. There are at least 20 varieties of ichthyosis, including inherited and acquired forms. In one of those satisfying quirks of timing, it was precisely 25 years ago that another article appeared in neurology by refsum and colleagues describing the successful dietary treatment of a patient with refsum disease. Refsum disease is an autosomal recessive neurological disease that results in the. Two brothers with refsums disease who experienced progressive symptoms despite optimal diet and plasmapheresis.
1176 134 972 1416 814 1116 1474 703 1427 235 1441 577 808 2 1234 29 505 253 653 275 674 1148 299 564 458 828 214 997 758 1100 1496 24 1212 386 71 588 73 558 935 305 973 800 1155 416 1079 62 1145 305