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Information for clinicians

1 Nomenclature

Adult Refsum's disease was first described in 1946 by the Norwegian neurologist Sigwald Refsum, as a distinct autosomal recessive neurological entity, which he called heredopathia atactica polyneuritiformis.

In the literature, adult Refsum's disease is referred to as 'adult Refsum's disease' (ARD) or 'classic Refsum's disease' (CRD) to distinguish it from infantile Refsum's disease (IRD), which belongs to the group of peroxisome biogenesis disorders, Zellweger spectrum. The signs and symptoms of IRD are markedly different from adult Refsum's disease. In fact the only finding shared by IRD and adult Refsum's disease is the accumulation of phytanic acid in plasma and tissues. In adult Refsum's disease, phytanic acid metabolism is the only abnormality, whereas in IRD a number of biochemical abnormalities result from the defect in peroxisome biogenesis. Thus, infantile Refsum's disease is a poor designation, given the lack of resemblance to adult Refsum's disease.

Adult Refsum's disease is also known as: phytanic acid oxidase deficiency; hereditary motor and sensory neuropathy IV; HMSN IV; HMSN4.

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Page last updated 26 June 2006