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Variegate Porphyria (Protoporphyrinogen Oxidase Deficiency)

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.
Also Known As:
Protoporphyrinogen Oxidase Deficiency; Porphyria, Variegate; Porphyria Variegata; Porphyria Variegate; Ppox Deficiency; Deficiency, Ppox; Ppox Deficiencies; Porphyria, South African Type
Networked: 263 relevant articles (4 outcomes, 18 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Acute Intermittent Porphyria (Porphyria, Acute)
2. Erythropoietic Protoporphyria
3. Hereditary Coproporphyria (Coproporphyrinogen Oxidase Deficiency)
4. Porphyria Cutanea Tarda
5. Porphyrias (Porphyria)

Experts

1. Frank, Jorge: 6 articles (03/2022 - 07/2006)
2. Poblete-Gutiérrez, Pamela: 6 articles (03/2022 - 07/2006)
3. Meissner, Peter N: 6 articles (03/2012 - 08/2003)
4. Bonkovsky, Herbert L: 5 articles (11/2019 - 01/2005)
5. Ferrer, Miguel D: 5 articles (01/2016 - 01/2009)
6. Pons, Antoni: 5 articles (01/2016 - 01/2009)
7. Tur, Josep A: 5 articles (01/2016 - 01/2009)
8. Frank, J: 5 articles (02/2012 - 01/2001)
9. Sureda, Antoni: 4 articles (07/2013 - 01/2009)
10. Tauler, Pedro: 4 articles (07/2013 - 01/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Variegate Porphyria:
1. Heme (Haem)IBA
2. protoporphyrin IXIBA
3. PorphyrinsIBA
4. heme arginateIBA
5. coproporphyrin IIBA
6. Antipyrine (Phenazone)FDA Link
7. Protoporphyrinogen Oxidase (Protox)IBA
8. EnzymesIBA
9. Hydroxymethylbilane Synthase (Porphobilinogen Deaminase)IBA
10. AntioxidantsIBA

Therapies and Procedures

1. Intravenous Administration
2. Therapeutics
11/01/1980 - "Diagnosis, pathogenesis and therapy of porphyria variegata are discussed."
03/01/2022 - "Here, we provide an overview of the etiopathogenesis, clinic, differential diagnosis, laboratory diagnostics and therapy of these complex metabolic disorders and cover in detail the most common form of porphyria worldwide (porphyria cutanea tarda), the most frequent childhood porphyria (erythropoietic protoporphyria), and the most common neurocutaneous porphyria (variegate porphyria)."
09/03/2021 - "mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks."
09/01/2010 - "The objectives of this study were as follows: (1) to evaluate the plasma and erythrocyte VB(6) (effect of PLP; effect of PLP was in indirect relationship with the concentration of erythrocyte VB(6)), and plasma and urinary OA in marathon runners, in patients with acute intermittent porphyria (AIP) and variegate porphyria, and in patients with stage 1 chronic kidney disease (CKD), chronic glomerulonephritis and nephrotic syndrome (CGNS); (2) to examine the influence of water diuresis in healthy subjects, and the influence of sodium diuresis (high sodium intake) and an intravenous administration of furosemide on the urinary excretion of VB(6) and OA in CKD stage 3-4 patients; and (3) to evaluate the influence of erythropoietin treatment on erythrocyte VB(6) (effect of PLP) in hemodialysis (HD) patients, and the influence of continuous ambulatory peritoneal dialysis (CAPD) therapy on plasma VB(6) and OA and their peritoneal clearance and transfer. "
3. Renal Dialysis (Hemodialysis)
4. Continuous Ambulatory Peritoneal Dialysis (CAPD)
5. Drug Therapy (Chemotherapy)