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Refsum's disease (heredopathia atactica polyneuritiformis)

An inborn error of lipid metabolism with storage of 3, 7, 11, 15 tetramethyl hexadecanoic acid a review of the clinical findings

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Abstract

On review of the literature a total of 37 patients from 23 families suffering from Refsum's disease were found. Their clinical findings are summarized and tabulated. All patients were afflicted by polyneuritis (paralysis, lacking tendon reflexes, albumino-cytological dissociation, cerebellar ataxia, hemeralopia and retinitis pigmentosa). In most patients signs of skin, heart and eye disease (cataracts) were present. By using a ranking method five patients reported as suffering from Refsum's disease were found to be probably affected by some other disease entity. Of particular significance was the observation that about 50 percent of all patients had bone malformations which were similar to but milder in degree than those observed in Thalidomide® embryopathy. In Refsum's disease an inborn error of metabolism is associated with (or causing?) true morphological malformations. The relationships between the clinical findings and the underlying biochemical defect are discussed.

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  1. Institute for Medical Chemistry and the Children's Hospital of the University of Berne, Switzerland

    R. Richterich, H. Moser & E. Rossi

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  3. E. Rossi
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Richterich, R., Moser, H. & Rossi, E. Refsum's disease (heredopathia atactica polyneuritiformis). Hum Genet 1, 322–332 (1965). https://doi.org/10.1007/BF00273974

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