U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

REFSUM DISEASE, ADULT, 1

MedGen UID:
411814
Concept ID:
C2749345
Disease or Syndrome
Synonym: Refsum Disease, Adult, 1
 
OMIM®: 266500; 602026

Professional guidelines

PubMed

Smith AD, Refsum H, Bottiglieri T, Fenech M, Hooshmand B, McCaddon A, Miller JW, Rosenberg IH, Obeid R
J Alzheimers Dis 2018;62(2):561-570. doi: 10.3233/JAD-171042. PMID: 29480200Free PMC Article
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
Steinberg D, Mize CE, Herndon JH Jr, Fales HM, Engel WK, Vroom FQ
Arch Intern Med 1970 Jan;125(1):75-87. PMID: 4188898

Recent clinical studies

Etiology

Wanders RJA, Baes M, Ribeiro D, Ferdinandusse S, Waterham HR
Physiol Rev 2023 Jan 1;103(1):957-1024. Epub 2022 Aug 11 doi: 10.1152/physrev.00051.2021. PMID: 35951481
Aubourg P, Wanders R
Handb Clin Neurol 2013;113:1593-609. doi: 10.1016/B978-0-444-59565-2.00028-9. PMID: 23622381
Depreter M, Espeel M, Roels F
Microsc Res Tech 2003 Jun 1;61(2):203-23. doi: 10.1002/jemt.10330. PMID: 12740827
Wanders RJ, Jansen GA, Lloyd MD
Biochim Biophys Acta 2003 Mar 17;1631(2):119-35. doi: 10.1016/s1388-1981(03)00003-9. PMID: 12633678
Portsteffen H, Beyer A, Becker E, Epplen C, Pawlak A, Kunau WH, Dodt G
Nat Genet 1997 Dec;17(4):449-52. doi: 10.1038/ng1297-449. PMID: 9398848

Diagnosis

Boltshauser E, Weber KP
Handb Clin Neurol 2018;154:287-298. doi: 10.1016/B978-0-444-63956-1.00017-5. PMID: 29903445
Aubourg P, Wanders R
Handb Clin Neurol 2013;113:1593-609. doi: 10.1016/B978-0-444-59565-2.00028-9. PMID: 23622381
Paller AS
Dermatol Clin 1994 Jan;12(1):99-107. PMID: 7511491
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O
J Neurol Neurosurg Psychiatry 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. PMID: 2420940Free PMC Article
Williams ML
Pediatr Dermatol 1983 Jul;1(1):1-24. doi: 10.1111/j.1525-1470.1983.tb01087.x. PMID: 6208542

Therapy

Picher-Martel V, Dupre N
CNS Neurol Disord Drug Targets 2018;17(3):161-171. doi: 10.2174/1871527317666180419115029. PMID: 29676235
Smith AD, Refsum H, Bottiglieri T, Fenech M, Hooshmand B, McCaddon A, Miller JW, Rosenberg IH, Obeid R
J Alzheimers Dis 2018;62(2):561-570. doi: 10.3233/JAD-171042. PMID: 29480200Free PMC Article
Weinstein R
J Clin Apher 1999;14(4):181-4. doi: 10.1002/(sici)1098-1101(1999)14:4<181::aid-jca5>3.0.co;2-z. PMID: 10611628
Jansen GA, Mihalik SJ, Watkins PA, Moser HW, Jakobs C, Heijmans HS, Wanders RJ
J Inherit Metab Dis 1997 Jul;20(3):444-6. doi: 10.1023/a:1005379406639. PMID: 9266377
Millar JH
Ulster Med J 1985 Apr;54(1):41-5. PMID: 2417395Free PMC Article

Prognosis

Yu J, Refsum E, Perrin V, Helsingen LM, Wieszczy P, Løberg M, Bretthauer M, Adami HO, Ye W, Blom J, Kalager M
Ann Oncol 2022 Jun;33(6):649-656. Epub 2022 Mar 8 doi: 10.1016/j.annonc.2022.02.226. PMID: 35276334
Oulhaj A, Refsum H, Beaumont H, Williams J, King E, Jacoby R, Smith AD
Int J Geriatr Psychiatry 2010 Jan;25(1):82-90. doi: 10.1002/gps.2303. PMID: 19484711
Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y
Am J Hum Genet 2003 Aug;73(2):233-46. Epub 2003 Jul 8 doi: 10.1086/377004. PMID: 12851857Free PMC Article
Depreter M, Espeel M, Roels F
Microsc Res Tech 2003 Jun 1;61(2):203-23. doi: 10.1002/jemt.10330. PMID: 12740827
Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O
J Neurol Neurosurg Psychiatry 1986 Jan;49(1):77-86. doi: 10.1136/jnnp.49.1.77. PMID: 2420940Free PMC Article

Clinical prediction guides

Parkes EE, Savage KI, Lioe T, Boyd C, Halliday S, Walker SM, Lowry K, Knight L, Buckley NE, Grogan A, Logan GE, Clayton A, Hurwitz J, Kirk SJ, Xu J, Sidi FA, Humphries MP, Bingham V; Neo-DDIR Investigators, James JA, James CR, Paul Harkin D, Kennedy RD, McIntosh SA
Br J Cancer 2022 Feb;126(2):247-258. Epub 2021 Nov 2 doi: 10.1038/s41416-021-01599-0. PMID: 34728791Free PMC Article
Menon GK, Lee SE, Lee SH
J Dermatol Sci 2018 Oct;92(1):10-17. Epub 2018 Mar 8 doi: 10.1016/j.jdermsci.2018.03.005. PMID: 30153959
Oulhaj A, Refsum H, Beaumont H, Williams J, King E, Jacoby R, Smith AD
Int J Geriatr Psychiatry 2010 Jan;25(1):82-90. doi: 10.1002/gps.2303. PMID: 19484711
Suzuki Y, Shimozawa N, Imamura A, Fukuda S, Zhang Z, Orii T, Kondo N
J Inherit Metab Dis 2001 Apr;24(2):151-65. doi: 10.1023/a:1010310816743. PMID: 11405337
Fujiwara C, Imamura A, Hashiguchi N, Shimozawa N, Suzuki Y, Kondo N, Imanaka T, Tsukamoto T, Osumi T
J Biol Chem 2000 Nov 24;275(47):37271-7. doi: 10.1074/jbc.M006347200. PMID: 10960480

Recent systematic reviews

Jennings MJ, Lochmüller A, Atalaia A, Horvath R
J Neuromuscul Dis 2021;8(3):383-400. doi: 10.3233/JND-200546. PMID: 32773395Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources