A RARE CASE OF VARIEGATE PORPHYRIA - A CASE REPORT
Journal: University Journal of Pre and Paraclinical Sciences (Vol.1, No. 1)Publication Date: 2015-11-07
Authors : S.JAYA; ROMY W MARSHNIL;
Page : 55-58
Keywords : convulsions or paralysis.;
Abstract
Variegate porphyria is a rare autosomal dominant disorder which occurs due to a deficiency of the enzyme protoporphyrinogen oxidase (1,2). The name variegate was first coined by Dean and Barnes (3).This disease was first described in south African white population. The disease frequency is 3 cases per 1000 persons. The disease shows a varied presentation which includes neurovisceral, cutaneous manifestations or both and hence its name.
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