{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T12:36:58Z","timestamp":1779367018661,"version":"3.53.0"},"reference-count":23,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2023,5,30]],"date-time":"2023-05-30T00:00:00Z","timestamp":1685404800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrients"],"abstract":"<jats:p>Adult Refsum disease (ARD) is a rare peroxisomal biogenesis disorder inherited in an autosomal recessive fashion and is often characterized by retinitis pigmentosa, cerebellar ataxia, and polyneuropathy. Many patients with ARD require diet modification, psychosocial support, and various specialist visits to manage their symptoms. In this study, we explored the quality of life in individuals with ARD by analyzing retrospective survey data collected by the Coordination of Rare Diseases at Sanford (CoRDS) Registry and Global Defeat Adult Refsum Everywhere (DARE) Foundation. Statistical tests used were frequencies, mean, and median. There were 32 respondents, ranging between 11 and 32 responses for each question. The mean age at diagnosis was 35.5 \u00b1 14.5 years (range 6\u201364) with 36.4% male and 63.6% female respondents. The average age for retinitis pigmentosa diagnosis was 22.8 \u00b1 15.7 years (range 2\u201361). Dieticians were the most frequently seen (41.7%) for management of low-phytanic-acid diets. Most participants exercise at least once per week (92.5%). Depression symptoms were reported in 86.2% of the participants. Early diagnosis of ARD is important for managing symptoms and preventing progression of visual impairment due to phytanic acid buildup. Interdisciplinary approach should be used for patients to address physical and psychosocial impairments of ARD.<\/jats:p>","DOI":"10.3390\/nu15112551","type":"journal-article","created":{"date-parts":[[2023,5,31]],"date-time":"2023-05-31T02:27:30Z","timestamp":1685500050000},"page":"2551","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Phytanic Acid Intake and Lifestyle Modifications on Quality of Life in Individuals with Adult Refsum Disease: A Retrospective Survey Analysis"],"prefix":"10.3390","volume":"15","author":[{"given":"Jeffrey J.","family":"Li","sequence":"first","affiliation":[{"name":"Department of Education, California University of Science and Medicine, Colton, CA 92324, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane J.","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Education, California University of Science and Medicine, Colton, CA 92324, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fauzia","family":"Nausheen","sequence":"additional","affiliation":[{"name":"Department of Education, California University of Science and Medicine, Colton, CA 92324, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1038\/ng1097-190","article-title":"Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene","volume":"17","author":"Jansen","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_2","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., and Amemiya, A. (2021). GeneReviews, University of Washington. Available online: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1353\/."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1093\/jnen\/60.11.1021","article-title":"Refsum Disease, Peroxisomes and Phytanic Acid Oxidation: A Review","volume":"60","author":"Wanders","year":"2001","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_4","unstructured":"Kumar, R., and De Jesus, O. (2023). StatPearls, StatPearls Publishing. Available online: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK560618\/."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1097\/ICB.0000000000000004","article-title":"Infantile Refsum disease in a young adult: Case presentation and brief review","volume":"8","author":"Maberley","year":"2014","journal-title":"Retin. Cases Brief Rep."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2044","DOI":"10.1212\/WNL.43.10.2044","article-title":"A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation","volume":"43","author":"Tranchant","year":"1993","journal-title":"Neurology"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1097\/00005176-199201000-00015","article-title":"Infantile refsum disease: Gastrointestinal presentation of a peroxisomal disorder","volume":"14","author":"Mandel","year":"1992","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1136\/jnnp.2003.026690","article-title":"Smell testing: An additional tool for identification of adult Refsum\u2019s disease","volume":"75","author":"Gibberd","year":"2004","journal-title":"J. Neurol. Neurosurg. Psychiatr."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1046\/j.0022-3042.2002.00766.x","article-title":"Refsum\u2019s disease: A peroxisomal disorder affecting phytanic acid alpha-oxidation","volume":"80","author":"Wierzbicki","year":"2002","journal-title":"J. Neurochem."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1111\/j.1600-0404.1996.tb07051.x","article-title":"Lipapheresis: An immunoglobulin-sparing treatment for Refsum\u2019s disease","volume":"94","author":"Gutsche","year":"1996","journal-title":"Acta Neurol. Scand."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/S0140-6736(79)91005-5","article-title":"Heredopathia atactica polyneuritiformis (refsum\u2019s disease) treated by diet and plasma-exchange","volume":"1","author":"Gibberd","year":"1979","journal-title":"Lancet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1177\/0883073811424799","article-title":"A child with night blindness: Preventing serious symptoms of Refsum disease","volume":"27","author":"Santer","year":"2012","journal-title":"J. Child Neurol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1136\/jnnp.2008.161059","article-title":"The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease","volume":"81","author":"Baldwin","year":"2010","journal-title":"J. Neurol. Neurosurg. Psychiatr."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1186\/s13287-022-02828-w","article-title":"Human primitive mesenchymal stem cell-derived retinal progenitor cells improved neuroprotection, neurogenesis, and vision in rd12 mouse model of retinitis pigmentosa","volume":"13","author":"Brown","year":"2022","journal-title":"Stem Cell Res. Ther."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Mukherji, M., Kershaw, N.J., MacKinnon, C.H., Clifton, I.J., Wierzbicki, A.S., Schofield, C.J., and Lloyd, M.D. (2001). \u201cChemical co-substrate rescue\u201d of phytanoyl-CoA 2-hydroxylase mutants causing Refsum\u2019s Disease. Chem. Commun., 972\u2013973.","DOI":"10.1039\/b101039p"},{"key":"ref_16","first-page":"23","article-title":"Relationship between Awareness of Disease and Adherence to Therapeutic Regimen among Cardiac Patients","volume":"3","author":"Heydari","year":"2015","journal-title":"Int. J. Community Based Nurs. Midwifery"},{"key":"ref_17","unstructured":"O\u2019Neal, T.B., and Luther, E.E. (2023). StatPearls, StatPearls Publishing."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"59","DOI":"10.3949\/ccjm.75a.08011","article-title":"Depression and heart disease: What do we know, and where are we headed?","volume":"76","author":"Pozuelo","year":"2009","journal-title":"Cleve. Clin. J. Med."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Wang, H. (2021). Micrornas, multiple sclerosis, and depression. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22157802"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1183\/09059180.00007813","article-title":"Depression and anxiety in patients with COPD","volume":"23","author":"Yohannes","year":"2014","journal-title":"Eur. Respir. Rev."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Tian, J., Kang, Y., Liu, P., and Yu, H. (2022). Effect of Physical Activity on Depression in Patients with Parkinson\u2019s Disease: A Systematic Review and Meta-Analysis. Int. J. Environ. Res. Public Health, 19.","DOI":"10.3390\/ijerph19116849"},{"key":"ref_22","unstructured":"Saeed, S.A., Cunningham, K., and Bloch, R.M. (2023, March 14). Depression and Anxiety Disorders: Benefits of Exercise, Yoga, and Meditation|AAFP. Available online: https:\/\/www.aafp.org\/pubs\/afp\/issues\/2019\/0515\/p620.html."},{"key":"ref_23","unstructured":"(2023, March 12). Global Patient Registry for Refsum Disease. Available online: https:\/\/www.defeatadultrefsumeverywhere.org\/refsum-patient-registry."}],"container-title":["Nutrients"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2072-6643\/15\/11\/2551\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T19:45:07Z","timestamp":1760125507000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2072-6643\/15\/11\/2551"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,30]]},"references-count":23,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2023,6]]}},"alternative-id":["nu15112551"],"URL":"https:\/\/doi.org\/10.3390\/nu15112551","relation":{},"ISSN":["2072-6643"],"issn-type":[{"value":"2072-6643","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,30]]}}}