Hereditary Coproporphyria (Coproporphyrinogen Oxidase Deficiency)

An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth 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, 5-AMINOLEVULINATE and COPROPORPHYRINS.

Also Known As:

Networked: 104 relevant articles (4 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Acute Intermittent Porphyria (Porphyria, Acute)
2.	Hepatic Porphyrias (Hepatic Porphyria)
3.	Erythropoietic Porphyria (Congenital Erythropoietic Porphyria)
4.	Porphyrias
5.	Porphyria Cutanea Tarda

Experts

1.	Doss, M O: 4 articles (12/2010 - 08/2000)
2.	Deybach, Jean-Charles: 3 articles (10/2005 - 01/2002)
3.	Puy, Hervé: 3 articles (10/2005 - 01/2002)
4.	Kühnel, A: 3 articles (01/2003 - 08/2000)
5.	Gross, U: 3 articles (01/2003 - 08/2000)
6.	Taketani, Shigeru: 2 articles (12/2013 - 01/2006)
7.	Varigos, George: 2 articles (05/2013 - 05/2011)
8.	Gouya, Laurent: 2 articles (10/2005 - 02/2004)
9.	Lyoumi, Said: 2 articles (10/2005 - 02/2004)
10.	Grandchamp, Bernard: 2 articles (10/2005 - 02/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary Coproporphyria:

1.	PorphyrinsIBA 01/01/2004 - "Identification of monovinyl tripropionic acid porphyrins and metabolites from faeces of patients with hereditary coproporphyria by high-performance liquid chromatography/electrospray ionization quadrupole time-of-flight tandem mass spectrometry." 08/01/2000 - "We describe the characteristic levels of urine, and fecal porphyrins and their precursors in hereditary coproporphyria and present the clinical features. " 03/01/1995 - "1. The increased urinary excretion of porphyrins as well as of their precursors was studied in a patient with hereditary coproporphyria during two acute attacks in which symptoms differed markedly in character and severity. " 10/01/1984 - "In a family inheriting the hereditary coproporphyria (HCP) gene, where 414 descendants have been traced through six generations and 135 members screened for faecal porphyrins, 27 subjects were found to have inherited the gene as well as the proband. " 05/22/1980 - "The fibroblasts of the patient with homozygous hereditary coproporphyria synthesized the same amount of porphyrins, but only 25% were found within the cells, whereas 75% were found in the medium. "
2.	LigasesIBA 03/20/1971 - "Hepatic delta-aminolaevulinic acid synthetase in an attack of hereditary coproporphyria and during remission." 10/31/1987 - "However the value of grouping acute intermittent porphyria, hereditary coproporphyria, variegated porphyria and the porphyria caused by PBG-synthetase deficiency under "acute porphyrias" is recognised since all involve acute attacks with similar symptoms and prognoses, all are triggered by the same factors and all are treated in the same way. "
3.	HormonesIBA 08/01/1995 - "Furthermore it could be shown that three females with repeated premenstrual clinical expression of an acute hepatic porphyria (acute intermittent porphyria and hereditary coproporphyria) could be treated successfully with a hormonal oral contraceptive or other exogenous hormones to stabilize the latent, subclinical phase of the disease. "
4.	Erythromycin (Erycette)FDA LinkGeneric 04/01/1992 - "We conclude that hereditary coproporphyria with associated autonomic neuropathy results in significant delay in small bowel and colonic transit; chronic administration of 500 mg three times a day oral erythromycin was not associated with maintenance of the improvement in regional transit and symptoms observed following acute i.v. administration of the drug at the same dose." 04/01/1992 - "Effects of erythromycin on gut transit in pseudo-obstruction due to hereditary coproporphyria." 04/01/1992 - "We studied gastrointestinal transit in a 57-year-old man with chronic intestinal pseudo-obstruction along with peripheral and autonomic neuropathy due to hereditary coproporphyria and we evaluated the effects of acute and chronic therapy with erythromycin. "
5.	Coproporphyrinogen Oxidase (Coproporphyrinogen III Oxidases)IBA 10/01/2000 - "The present study describes a simple method for the purification of rat liver coproporphyrinogen oxidase, introducing for the first time data on the structure and function of the protein in a tissue often used as a laboratory model in biological studies, and contributing to the study of human hereditary coproporphyria." 05/01/2013 - "Defects in the coproporphyrinogen oxidase (CPOX) enzyme result in the autosomal dominant hereditary coproporphyria. " 02/01/2002 - "Her mother and both sisters could be verified as heterozygous gene carriers of hereditary coproporphyria by their urinary and fecal excretion parameters and because of reduced coproporphyrinogen oxidase activity up to 50%. " 01/15/2002 - "The mother and both sisters were recognized as heterozygous gene carriers of hereditary coproporphyria in the latent phase by enhanced coproporphyrin with isomer I/III inversion in feces and decrease of the coproporphyrinogen oxidase activity to about 50%. " 01/01/2002 - "Hereditary coproporphyria (HCP) is an autosomal dominant disorder, resulting from a partial deficiency of the enzyme coproporphyrinogen oxidase (CPO). "
6.	OxidoreductasesIBA 12/01/2013 - "The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria." 01/01/2013 - "Hereditary Coproporphyria Associated with the Q306X Mutation in the Coproporphyrin Oxidase Gene Presenting with Acute Ataxia." 02/01/1995 - "Hereditary coproporphyria (HC) is an acute hepatic porphyria with autosomal dominant inheritance caused by a deficient activity of coproporphyrinogen IX oxidase (CPX). " 01/01/2009 - "Here we report the characterization of four novel mutations and a previously described one of the coproporphyrinogen III oxidase (CPO) gene in five Italian patients affected by Hereditary Coproporphyria (HCP). " 01/01/2003 - "Coproporphyrinogen III oxidase is deficient in hereditary coproporphyria. "
7.	PorphobilinogenIBA 10/01/1996 - "Simple screening tests, urinary porphobilinogen (PBG) for acute intermittent porphyria (AIP) and fecal coproporphyrin for hereditary coproporphyria (HCP), were performed in a family study of AIP and HCP. " 01/01/2006 - "Summary A Caucasian male had symptoms of acute porphyria, with increases in urinary delta-aminolaevulinic acid (ALA), porphobilinogen (PBG) and coproporphyrin that were consistent with hereditary coproporphyria (HCP). " 02/01/2008 - "Large increases of urinary porphobilinogen (PBG) indicate acute porphyria, which may be due to acute intermittent porphyria, variegate porphyria, or hereditary coproporphyria. " 08/01/2000 - "Especially, we measured the coproporphyrin isomers I and III. The group of hereditary coproporphyria patients exhibited a significantly higher (p<0.0001) excretion of urinary porphyrin precursors, delta-aminolevulinic acid (median = 84 micromol/24 h) and porphobilinogen (median = 39 micromol/24 h), as compared to controls (delta-aminolevulinic acid: 22 micromol/24 h, porphobilinogen: 3 micromol/24 h; median, n = 20). " 12/01/1979 - "As a consequence of this secondary control, there is excessive excretion of the porphyrin precursors delta-aminolaevulinic acid and porphobilinogen in the acute porphyrias and excessive excretion of porphyrins leading to solar photosensitivity in the non-acute porphyrias and in variegate and hereditary coproporphyria. "
8.	Complementary DNA (cDNA)IBA 10/01/1994 - "Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria." 01/04/1994 - "The isolation and expression of cDNA for human coprogen oxidase should facilitate studies of the structure of the gene as well as characterization of molecular lesions causing hereditary coproporphyria." 11/01/1996 - "The molecular cloning of cDNA and genes encoding enzymes of the haem biosynthetic pathway have permitted the genetic defects underlying acute intermittent porphyria (AIP) and hereditary coproporphyria to be unravelled. "
9.	Riboflavin (Vitamin B2)FDA LinkGeneric 01/01/1957 - "[Urinary elimination of vitamin B2 and porphyrin in a patient of chronic hereditary coproporphyria, with a study of the method of determination of vitamin B2 and porphyrin in urine]."
10.	coprogenIBA 01/04/1994 - "The isolation and expression of cDNA for human coprogen oxidase should facilitate studies of the structure of the gene as well as characterization of molecular lesions causing hereditary coproporphyria."

Therapies and Procedures

1.	Kidney Transplantation 01/01/2013 - "Kidney transplantation in hereditary coproporphyria using tacrolimus and mycophenolate mofetil: a case report."
2.	Renal Dialysis (Hemodialysis) 04/01/1986 - "Porphyria cutanea tarda, the most common disorder of porphyrin metabolism, must be differentiated from variegate porphyria, hereditary coproporphyria, bullous dermatosis of hemodialysis, and drug-related pseudoporphyria."
3.	Appendectomy 07/01/1987 - "An appendectomy operation was undertaken in a 29-year-old patient with signs of an acute crisis of hereditary coproporphyria. "
4.	Epidural Anesthesia 03/01/1996 - "Safety of isoflurane and epidural anesthesia in a patient with hereditary coproporphyria."
5.	Anesthesia 02/01/2000 - "Uneventful propofol anesthesia in a patient with coexisting hereditary coproporphyria and hereditary angioneurotic edema."