Refsum Disease
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Refsum disease is a rare genetic disorder caused by the buildup of phytanic acid, a fatty acid found in beef and dairy products. Key symptoms include impaired eyesight due to retinitis pigmentosa, deafness, loss of smell, coordination problems, dry skin, and heartbeat abnormalities. A blood test can detect high levels of phytanic acid to diagnose Refsum disease. Following a low-phytanic acid diet can improve symptoms, although vision and hearing changes may be permanent. The disease is treatable but not curable. Catching it early and adhering to medical advice can improve quality of life.
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- 1. Refsum Disease Infantile Refsum’s Disease
- 2. Symptoms How do I know if I have Refsum Disease? • Impaired eyesight (Retinitis Pigmentosa) – Loss of night vision in childhood disrupted peripheral vision blindness – Most apparent and serious symptom • Deafness Apparent later in life • Loss of smell (Anosmia) – Always apparent in patient Retinis Pigmentosa • Balance or coordination problems (Ataxia) Apparent later in life • Dry, scaly skin (Ichthyosis) Apparent later in life • Heartbeat abnormalities (Cardiac arrhythmias) • Shortened fingers or toes Disease usually apparent in childhood, although sometimes symptoms may not develop until 40s or 50s
- 3. Diagnosis Symptoms Additional Tests – Impaired eyesight -Blood test (Phytanic acid level) • Diagnosed as Retinitis Pigmentosa – Loss of smell • Diagnosed as Anosmia – Sometimes others • i.e. chthyosis or Cardiac arrhythmias Diagnosis of Refsum Disease
- 4. Causes of disorder Why do I have this disease? • Abnormal buildup of a type of fatty acid called a phytanic acid substance obtained from beef and dairy products • Peroxisomes normally break down this fatty acid • Mutations in genes disrupt break down of fatty acid buildup toxic to cells Although, relationship between buildup and affected vision/smell and other features of disease is unclear • Recessive genetic disorder
- 5. Treatments How can I treat the disease? • Diet – Reduce amount of phytanic acid entering body – Will clear up walking, nerve, and skin problems – Slow progression of eye/hearing changes
- 6. Prognosis How can I live with this disease? Refsum disease is treatable although incurable phytanic acid is found in foods beef Diet can improve problems, although changes in vision, hearing, and sense of smell may be irreversible Catch disease early Get advice Follow Advice Increased Life Quality
- 7. Bibliography • NIH Neurological Institute. National Institute of Neurological Disorders and Stroke. Heath and Human Services , n.d. Google. Web. 18 Oct. 2012. <http://www.ninds.nih.gov/disorders/refsum/refsum.htm >. • Genetics Home Reference. US National Library of Medicine; USA.gov, 15 Oct. 2012. Google. Web. 18 Oct. 2012. <http://ghr.nlm.nih.gov/condition/refsum-disease >. • RDDPT clinicans . Adult Refsum's Disease. Ed. Emma Chapman. N.p., 2006. Google. Web. 18 Oct. 2012. <http://www.refsumdisease.org/ >. Images: • Private. Google. Web. 18 Oct. 2012. <http://www.pearsonhighered.com/mathews/ch18/phytacid.htm >. • Neuroradiol, Am. J. Refsum's Disease in Arabian Family. 2012. BMJ Publishing Group. Google. Web. 18 Oct. 2012. <http://jnnp.bmj.com/content/70/4/564.full >. • Admin, . Refsum Disease. 2012. Genetic People. Google. Web. 18 Oct. 2012. <http://geneticpeople.com/?p=1177 >. • Cruz, Sharise. Pink Slime Uproar Forces the Beef Industry to Fight Back. 2012. North America Business Review. Google. Web. 20 Oct. 2012. < http://www.businessreviewusa.com/business_leaders/pink-slime-uproar-forces-the- beef-industry-to-fight-back >. • Facts About Dairy Products. AIPL Kid's Corner. Google. Web. 20 Oct. 2012. <http://www.aipl.arsusda.gov/kc/dairy.html >.