Refsum disease

Refsum disease
Other namesAdult Refsum disease, heredopathia atactica polyneuritiformis, phytanic acid oxidase deficiency, and phytanic acid storage disease[1][2][3][4]
Phytanic acid
SpecialtyNeurology 

Refsum disease is an autosomal recessive[5] neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991).[6][7] Refsum disease typically begins to show symptoms during adolescence, although symptoms may first appear anywhere between infancy and old age. Refsum disease is definitively diagnosed by lab tests showing above average serum levels of phytanic acid, or through genetic testing.[8]

  1. ^ Online Mendelian Inheritance in Man (OMIM): Refsum Disease, Classic - 266500
  2. ^ Freedberg; et al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 499. ISBN 978-0-07-138076-8.
  3. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 564. ISBN 978-0-7216-2921-6.
  4. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  5. ^ Jayaram, H.; Downes, S. M. (March 2008). "Midlife diagnosis of Refsum Disease in siblings with Retinitis Pigmentosa – the footprint is the clue: a case report". Journal of Medical Case Reports (Free full text). 2: 80. doi:10.1186/1752-1947-2-80. PMC 2275283. PMID 18336720.
  6. ^ Refsum S (1945). "Heredoataxia hemeralopica polyneuritiformis - et tidligere ikke beskrevet familiært syndrom? En foreløbig meddelelse". Nordisk Medicin (in Norwegian). 28: 2682–6.
  7. ^ 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.
  8. ^ Kumar, Rahul; Hodis, Brendan; De Jesus, Orlando (2025), "Refsum Disease", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 32809453, retrieved 2025-04-02
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