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Porphyria, Variegate

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Definition: An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen.      Other names Variegates, Porphyria; Variegate, Porphyria; Porphyria Variegates; Deficiencies, Protoporphyrinogen Oxidase; Variegate Porphyria; Protoporphyrinogen Oxidase Deficiency; Porphyria Variegate
 
SubstanceCAS Registry & nameCategoriesSource
Porphyria, South African type  0   *Porphyria, Variegate.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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