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Refsum's disease

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This rare disorder was the first example of an inherited disorder in fatty acid oxidation. It is characterized by phytanic acid accumulation in the blood and tissues.

The symptoms consist of night blindness (the earliest symptom), progressive nerve deafness, atypical retinitis pigmentosa, progressive concentric constriction of visual fields, lenticular opacity, peripheral polyneuropathy, absent or diminished deep tendon reflexes, cerebellar ataxia, loss of sense of smell, unsteady gait, loss of position sense, intention tremor, nystagmus, heart disease with ECG changes, ichtyosis, hyeprkeratosis palmaris et plantaris, epiphyseal dysplasia, syndactyly, hammer toe, pes cavus, urinary sphincter impairment, and osteochondritis.

Onset is in childhood or adolescence up to 30 years of age. The course is progressive, with periods of stagnation and partial remission.

Refsum, who observed it in five members of two unrelated Norwegian families, first reported the condition in 1945. His patients aged 25 to 41 years, were all born of consanguineous parents. The condition has since been observed in children. Inheritance is autosomal recessive.

This condition has been shown to be a disorder of lipid metabolism. In 1963 the German scientists E. Klenk and W. Kahlke detected large amounts of a peculiar branched-chain fatty acid, phytanic acid, in a Refsum patient. Dietary treatment started in Norway in 1966 under professor Lorentz Eldjarn (born 1920), Head of the Central Laboratory and Institute for Clinical Biochemistry at the Oslo University Hospital, Rikshospitalet.


  • F. Thiébaut, et al:
    Deux syndromes oto-neuro-oculistique d’origine congénitale. Leur rapport avec la phocomatose de van der Hoeve et autres dysplasies neuro-éctodermiques.
    Revue neurologique, Paris, 1939-1940. 72: 71-75.
  • S. Refsum:
    Heredoataxia hemeralopica polyneuritiformis - et tidligere ikke beskrevet familiært syndrom? En foreløbig meddelelse.
    Nordisk Medicin, Stockholm, 1945, 28: 2682-2686.
  • S. Refsum:
    Heredopathia atactica polyneuritiformis. A familial syndrome not hitherto described. A contribution to the clinical study of hereditary diseases of the nervous system.
    Acta psychiatrica et neurologica, Copenhagen, 1946. Supplement 38: 1-303.
  • E. Klenk and W. Kahlke:
    Ueber das Vorkommen der 3,7,11,15-Tetramethyl-Hexadecansäure (Phytansäure) in den Cholesterinestern und andern Lipoidfraktionen der Organe bei einem Krankheitsfall Krankheitsfall unbekannter Genese. (Verdacht auf Heredopathia atactica polyneuritiformis(Refsum-Syndrom).
    Hoppe-Seylers Zeitschrift für physiologische Chemie, Berlin, 1963, 333: 133 - 139.
  • R. Richterich, P. Van Mechelen, E. Rossi:
    Refsum's disease (heredopathia atactica polyneuritiformis): an inborn error of lipid metabolism with storage of 3,7,11,15-tetramethyl hexadecanic acid. I. Report of a case.
    The American Journal of Medicine, New York, 1965, 39: 230-236.
  • W. Stoffel and W. Kahlke:
    The transformation of phytol into 3,5,11,15-tetra-methylhexadecanoic (phytanic) acid in heredopathia atactica polyneuritiformis (Refsum’s syndrome).
    Biochemical and Biophysical Research Communications, New York, 1965, 19: 33.
  • D. Steinberg, C. E. Mize, J. Avigan, H. M. Fales, L. Eldjarn, K. Try, O. Stokke, S. Refsum:
    Studies on the metabolic error in Refsum's disease.
    The Journal of Clinical Investigation, New York, 1967, 46: 313-322.
  • K. Try, O. Stokke:
    Biochemical and dietary studies in Refsum's disease (heredopathia atactica polyneuritiformis). Oslo: Universitetsforlaget, 1969.
  • S. Refsum:
    Heredopathia atactica polyneuritiformis (Refsum’s disease).
    In: P. J. Dyck, P. K. Thomas, E. H. Lambert (editors): Peripheral neuropathy. Volume II. Saunders, Philadelphia, London, Toronto, 1975.
  • M. Goulon, P. Gajdos, A. M. Chesneau, J. C. Raphael:
    [Refsum-Thiebaut-Klenk-Kahlke disease. Anatomo-clinical study of a case].
    Annales de médecine interne, Paris, November 1977, 128 (11): 869-876. In French.
  • S. Refsum:
    Heredopathia atactica polyneuritiformis phytanic-acid storage disease, ”Refsum's disease”: a biochemically well-defined disease with a specific dietary treatment.
    Archives of Neurology, Chicago, October 1981, 38 (10): 605-606.
  • S. Refsum, G. Djupesland, G. Flottorp:
    Phytanic acid storage disease: hearing maintained after 15 years of dietary treatment. Neurology, 1983, 33: 237.

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