Refsum’s disease

GC: n

CT: Refsum’s disease is an inherited disorder of fatty acid oxidation. It is characterised by phytanic acid accumulation in the blood and tissues, causing a motor and sensory neuropathy.
The diagnostic features of Refsum’s disease are:

  • Retinitis pigmentosa
  • Peripheral polyneuropathy
  • Cerebellar ataxia

It was first described by Sigvald Refsum in 1945. He observed it in two unrelated Norwegian families with consanguineous parents.
S: Patient – (last access: 10 April 2017)

N: 1. – Refsum (pn): Sigvald Bernhard Refsum (1907 – 1991) norwegian physician. Refsum held the chair of neurology at the University of Oslo from 1954 until his retirement in 1978.
– disease (n): Early 14c., from Old French desaise (‘discomfort, inconvenience’), des– (‘dis = without, away’) + –aise (‘ease = physical comfort, undisturbed state of the body; tranquility, peace of mind’).
2. Refsum disease (RD) is a neurocutaneous syndrome that is characterized biochemically by the accumulation of phytanic acid in plasma and tissues. Patients with Refsum disease are unable to degrade phytanic acid because of a deficient activity of phytanoyl-CoA hydroxylase (PhyH), a peroxisomal enzyme catalyzing the first step of phytanic acid alpha-oxidation. Refsum disease can be classified as a peroxisome biogenesis disorder. This category is inherited as an autosomal recessive trait and is characterized by altered peroxisome assembly, resulting in multiple peroxisome enzyme deficiencies, complex developmental sequelae, and progressive disabilities.
3. Other names: adult Refsum disease, ARD, classic Refsum disease, CRD, hereditary motor and sensory neuropathy Type IV, heredopathia atactica polyneuritiformis, HMSN IV, HMSN type IV, phytanic acid storage disease, Refsum syndrome.
4. Cultural Interrelation:
– Reality: We can mention the book Heredopathia atactica polyneuritiformis: A Familial Syndrome not Hitherto Described. A Contribution to the Clinical Study of the Hereditary Diseases of the Nervous System written by Sigvald Refsum in 1946.
– Fiction: We could mention episode 17 Fall From Grace from the TV series (2004-2012) House M. D. (season 7).

S: 1. WNMDT – (last access: 31 March 2017); OED – ; (last access: 17 March 2017). 2. MD – (last access: 31 March 2017). 3. NIH –”> (last access: 31 March 2017). 4. WNMDT – (last access: 31 March 2017); (last access: 22 March 2018).

OV: Refsum disease

S: NIH – (last access: 22 March 2018); NCBI – (last access: 22 March 2018).

SYN: Disorder of Cornification 11 (Phytanic Acid Type), DOC 11 (Phytanic Acid Type), Heredopathia Atactica Polyneuritiformis, Hypertrophic Neuropathy of Refsum, Phytanic Acid Storage Disease.

S: (last access: 22 March 2018)

CR: nyctalopia