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IN REFSUM'S DISEASE----

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IN REFSUM'S DISEASE----

Post by nomoredoc on Fri Dec 07, 2007 12:21 pm

Question which is not included as a component???

1)mental retardation
2)retinitis pigmentosa
3)cerebellar ataxia
4)polyneuritis

confused [doubt is b/w (1) & (2)!!!]
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Re: IN REFSUM'S DISEASE----

Post by sonia on Sun Dec 09, 2007 2:44 am

refsum disease is charaCterised by progressive sensorimotor demyelinating polyneuropathy,cerebellar ataxia and retinitis pigmentosa there is no mr defect is in oxidation of phytanic acids due to deficiency of phytanic acid oxidase in peroxisomes .Additiional features cardiomyopathy icthyosis and cataracts.ref page 2513 harrison 16th edition
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