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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Subheadings:
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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