Porphyrias

A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.

Also Known As:

Networked: 1291 relevant articles (26 outcomes, 81 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hepatic Porphyrias (Hepatic Porphyria)
2.	Porphyria Cutanea Tarda
3.	Erythropoietic Protoporphyria
4.	Pemphigus (Pemphigus Vulgaris)
5.	Skin Diseases

Experts

1.	Bonkovsky, Herbert L: 8 articles (09/2015 - 11/2004)
2.	Frank, Jorge: 8 articles (01/2015 - 06/2004)
3.	San Martín de Viale, Leonor C: 8 articles (02/2013 - 07/2003)
4.	Deybach, Jean-Charles: 7 articles (09/2015 - 01/2002)
5.	Herrero, C: 7 articles (01/2013 - 07/2000)
6.	Frank, J: 7 articles (01/2010 - 11/2001)
7.	Sassa, Shigeru: 7 articles (04/2008 - 02/2002)
8.	Sassa, S: 7 articles (01/2004 - 01/2000)
9.	Puy, Hervé: 6 articles (09/2015 - 01/2002)
10.	Phillips, John D: 6 articles (12/2014 - 01/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Porphyrias:

1.	Hexachlorobenzene (HCB)IBA 01/01/1980 - "Rats given CQ simultaneously from the beginning of the HCB feeding showed a significantly delayed onset of porphyria. " 07/01/1992 - "When administered simultaneously, MiBK reduced the severity of HCB-induced porphyria, but when given sequentially after HCB accumulation, it enhanced the porphyrinogenic response. " 07/15/1986 - "The results obtained show that DF improved the biochemical picture during HCB porphyria. " 06/01/1999 - "For this purpose, a time-course study (2, 3 and 4 weeks of hexachlorobenzene treatment) of phospholipid pattern and porphyrin content was performed comparatively in two strains of rats (Wistar and Chbb THOM) which differ in their susceptibility to develop HCB-induced porphyria. " 04/01/1993 - "Instead, the present study points to the involvement of a putative reactive intermediate in the primary oxidative step in HCB-induced porphyria, since based on paired observations of individual rats, the degree of porphyria was correlated to a high degree with excretion of PCP, whereas correlation of porphyria with early excretion of TCHQ was much weaker. "
2.	Glucose (Dextrose)FDA LinkGeneric 07/01/1981 - "8 patients (7 women) with acute abdominal-neurological porphyria syndrome and 3 patients (2 women) in the remission phase were treated with high carbohydrate intake (approximately 500 g/24 h), mainly in form of intravenous glucose infusions. " 02/01/2013 - "G6PD stimulation would decrease hepatic glucose concentrations and consequently exacerbate the porphyria. " 02/01/2013 - "The present work describes the effects of this treatment on the pentose phosphate (PP) pathway, glutahione metabolism and redox state and how they contribute to alter the glucose pool of hepatocytes and modulate porphyria, in Wistar rat livers. " 04/01/2011 - "The feeding of a restricted diet (5% glucose) to Wistar rats resulted in reversible porphyria. " 02/01/2008 - "Likewise, the implication of these results in the control of porphyrias by glucose is discussed."
3.	PorphyrinsIBA 11/01/2006 - "For the diagnosis of clinically expressed porphyrias, a logical stepwise approach including the analysis of porphyrins and their precursors should not be underestimated, as it is still very useful, and is often the best from the cost-effective point of view." 11/01/1990 - "Non-absorbable sorbents that bind porphyrins in the gastrointestinal tract may be useful in the treatment of porphyrias whose manifestations result from porphyrin excess. " 01/15/2003 - "This method should be easily adapted through cross-validation for use in determining the effects of chemicals and pharmaceuticals on the urinary excretion profile of porphyrins in preclinical studies with other species, and in assisting the diagnosis of porphyria in clinical studies." 10/01/1988 - "Studies on the mechanisms of trace metal-induced renal porphyria support the view that the kidney can play an important, even predominant, role in the etiology of excess urinary porphyrins excreted as a result of disordered porphyrin metabolism. " 06/01/1967 - "Rapid thin-layer chromatography of porphyrins and related compounds, and its application to the study of porphyrias."
4.	Chloroquine (Aralen)FDA LinkGeneric 01/01/1980 - "The treatment of Porphyria Cutaneous Tarda (PCT) has greatly improved by the introduction of low-dose chloroquine. " 09/01/1972 - "Studies on low dose chloroquine therapy and the action of chloroquine in symptomatic porphyria." 01/01/1986 - "The presence of chronic porphyria hepatica, at least in its clinically manifest form, (= p.c.t.), should be considered a contraindication for chloroquine in prophylaxis and treatment of other illnesses (e.g. " 06/15/1978 - "[Porphyria erythropoietica congenita Günther and chloroquine (author's transl)]." 05/15/1965 - "EFFECTS OF CHLOROQUINE ON PATIENTS WITH CUTANEOUS PORPHYRIA OF THE "SYMPTOMATIC" TYPE."
5.	Heme (Haem)IBA 11/01/2004 - "Knowledge of the factors chiefly responsible for regulating the rate of synthesis of heme has helped to explain how drugs and other factors may cause porphyria. " 03/14/2013 - "Heme excess exhibits several toxic effects on liver and kidney, which deserve study in humans and in animal models of the human porphyrias or other disorders." 09/01/2015 - "Each porphyria is caused by abnormal function at a separate enzymatic step resulting in a specific accumulation of heme precursors. " 09/01/2015 - "The hereditary porphyrias comprise a group of eight metabolic disorders of the heme biosynthesis pathway. " 09/01/2015 - "Porphyrias are a group of eight metabolic disorders characterized by defects in heme biosynthesis. "
6.	Cytochrome P-450 Enzyme System (Cytochrome P450)IBA 04/01/1993 - "Studies on selected microsomal enzyme activities associated with cytochrome P-450 showed no correlation with the propensities of strains to develop porphyria. " 12/15/1991 - "2. Both N-alkylporphyrins are chiral, are labelled from 5-amino[4-14C]laevulinate, and their liver accumulation can be inhibited by pretreatment with a suicide substrate of cytochrome P-450, which also prevents porphyria. " 01/01/1987 - "Role of cytochrome P-450 in porphyria caused by halogenated aromatic compounds." 01/01/1985 - "Only weight loss, increased cytochrome P-450 content, and increases in GSH-t activity occurred simultaneously with the induction of porphyria." 09/15/1980 - "These studies suggest that induction of porphyria is a combination of two distinct processes: (a) induction of delta-aminolaevulinate synthase synthesis by destruction of cytochrome P-450 haem and consequent depletion of cellular free haem; (b) maintenance of continued delta-aminolaevulinate synthase synthesis by preventing replenishment of cellular haem either by inhibiting haem synthesis and/or by promoting continuous removal of newly synthesized haem."
7.	Hemin (Panhematin)FDA Link 08/01/1985 - "Intravenous administration of hematin is effective in the treatment of acute exacerbations of the inducible porphyrias. " 03/01/1995 - "Despite their importance as infusions for the treatment of porphyrias, aqueous solutions of hemin can be quite unstable, with a reported half-life of a few hours. " 02/01/1988 - "Hematin suppressed the chemical signs of porphyria in all patients and the symptoms in those with acute attacks. " 08/21/1987 - "Hematin (iron-III-protoporphyrin 9) has been used for several years in the treatment of acute attacks of inducible porphyrias. " 02/07/1987 - "[Efficacy and tolerability of a new hematin in the treatment of an acute attack of porphyria]."
8.	MuscimolIBA 02/01/2001 - "The similarity in the potency and mechanism of the ALA-induced inhibition of muscimol binding in rat and human membranes indicate that rat studies are useful to evaluate the neurotoxic properties of ALA towards the human GABAergic system, and may help to understand the pathophysiology of porphyria."
9.	Glycerol (Glycerine)FDA LinkGeneric 04/01/1976 - "Of the four patients having symptoms believed referrable to porphyria during the study, three reported an improvement in symptoms during the high glycerol intake. "
10.	OxidoreductasesIBA 12/01/1988 - "5. The severe impairment of hepatic mixed function oxidase activity even in the symptomless stage of porphyria indicates cautious dosage of drugs primarily eliminated by hepatic oxidative reactions." 07/01/2006 - "[Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile]." 01/01/2003 - "One patient was suspected of porphyria caused by deficiency of delta-aminolevulenic acid dehydrogenase. " 09/01/1974 - "The reversal of experimental porphyria and the prevention of induction of hepatic mixed-function oxidase by acetate." 01/01/1981 - "[Induction of mixed microsomal oxidase in experimental hexachlorobenzene porphyria in rabbits]."

Therapies and Procedures

1.	Photochemotherapy (Photodynamic Therapy) 09/01/2005 - "It further discusses the way in which research on the etiologies of the various porphyrias has led to the development of porphyrin-based photodynamic therapy, which shows great promise in targeted therapy for a variety of serious pathologies." 04/19/2005 - "The structures described here provide a possible native conformation of the carbohydrate-binding site of PNA in the absence of the ligand, highlight mapping of the unsaturated binding surfaces of PNA using porphyrin interactions, indicate new leads toward possible application of this lectin in photodynamic therapy, and exhibit diverse modes of porphyrin-lectin interactions with implications to porphyria, a disease that results from abnormal accumulation of porphyrins." 03/01/2005 - "Acute neuropathy mimicking porphyria induced by aminolevulinic acid during photodynamic therapy." 04/01/1986 - "These results must not be ignored in systemic effects of porphyrias and in photochemotherapy with hematoporphyrin derivatives." 09/01/1993 - "Porphyrins, porphyrias, cancer and photodynamic therapy--a model for carcinogenesis."
2.	Splenectomy 06/01/1960 - "[Splenectomy in 3 cases of congenital porphyria]." 08/30/1959 - "[Porphyria and splenectomy]." 06/01/1955 - "Effect of splenectomy on porphyria erythropoietica." 04/26/1952 - "Effect of splenectomy in a case of congenital porphyria." 12/01/1979 - "Cutaneous hepatic porphyria may be treated by venesection, erythropoietic protoporphyria with beta caratene whilst congenital porphyria may be improved by splenectomy and chloroquine therapy."
3.	Aftercare (After-Treatment) 01/01/1953 - "Porphyria improved after treatment with BAL." 01/01/1983 - "V. Different phases of porphyria during and after treatment." 09/25/1971 - "Toxic porphyria after treatment with sulphonal and trional." 11/22/1986 - "[A case of porphyria after treatment with cisplatin]." 01/08/1971 - "Chemically induced porphyria: increased microsomal heme turnover after treatment with allylisopropylacetamide."
4.	Intravenous Injections 07/15/2013 - "Intrahepatic administration conveyed full protection against induced porphyria attacks at a significantly lower viral dose than intravenous injection. "
5.	Laparotomy 11/01/1997 - "Authors considered, that urines getting dark trial could improve process of reaching the diagnosis of porphyria, which could often protected patient from exploratory laparotomy getting worse a prognostication."