Q J Med 2001; 94: 403-406
© 2001 Association of Physicians
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Refsum's disease
1 From the Neurology Department, University Hospital Nottingham, Nottingham, 2 Department of Chemical Pathology and Neonatal Screening, The Children's Hospital, Sheffield, and 3 Department of Clinical Neurology, The National Hospital for Neurology and Neurosurgery, London, UK
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Introduction |
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Refsum's disease (hereditary motor and sensory neuropathy type IV) is a rare autosomal recessive condition first characterized by Sigvald Refsum in 1945. He initially chose the name heredoataxia hemeralopica polyneuritiformis,1 subsequently amending this to heredopathia atactica polyneuritiformis.2 Thankfully, the eponymous version now predominates in the literature, and these earlier terms have been largely abandoned.
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Biochemistry |
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Refsum's disease is caused by defective alpha oxidation of phytanic acid (3,7,11,15 tetramethylhexadecanoic acid), a branched-chain fatty acid present in a wide range of foodstuffs including dairy products, some meats and fish.3 The defective enzyme is phytanoyl-coenzyme A hydroxylase, which normally catalyses the second step in the breakdown of phytanic to pristanic acid using the CoA derivative as a substrate (the first step in alpha oxidation is the conversion of phytanic acid to phytanoyl CoA by Phytanoyl CoA ligase).4 This results in accumulation of phytanic acid, with elevated levels in blood and other tissues including
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Clinical features |
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Diagnosis |
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Genetics |
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Treatment |
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Conclusion |
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Notes |
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References |
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