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Porphyria, Variegate

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.

Year introduced: 2005

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Tree Number(s): C06.552.830.625, C16.320.850.742.625, C17.800.827.742.625, C18.452.811.400.625

MeSH Unique ID: D046350

Entry Terms:

  • Variegate Porphyria
  • Porphyria Variegate
  • Protoporphyrinogen Oxidase Deficiency
  • Porphyria Variegata
  • Porphyria, South African Type
  • Ppox Deficiency
  • Deficiency, Ppox
  • Ppox Deficiencies

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