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Mol Genet Metab 2018 Nov 30. Epub 2018 Nov 30.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States. Electronic address:

The inborn errors of heme biosynthesis, the Porphyrias, include eight major disorders resulting from loss-of-function (LOF) or gain-of-function (GOF) mutations in eight of the nine heme biosynthetic genes. The major sites of heme biosynthesis are the liver and erythron, and the underlying pathophysiology of each of these disorders depends on the unique biochemistry, cell biology, and genetic mechanisms in these tissues. The porphyrias are classified into three major categories: 1) the acute hepatic porphyrias (AHPs), including Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), and 5-Aminolevlulinic Acid Dehydratase Deficient Porphyria (ADP); 2) a hepatic cutaneous porphyria, Porphyria Cutanea Tarda (PCT); and 3) the cutaneous erythropoietic porphyrias, Congenital Erythropoietic Porphyria (CEP), Erythropoietic Protoporphyria (EPP), and X-Linked Protoporphyria (XLP). Read More

Eur J Med Genet 2018 Nov 23. Epub 2018 Nov 23.

Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain. Electronic address:

Porphyrias are rare diseases caused by alterations in the heme biosynthetic pathway. Depending on the afected enzyme, porphyrin precursors or porphyrins are overproduced, causing acute neurovisceral attacks or dermal photosensitivity, respectively. Hereditary Coproporphyria (HCP) and Variegate Porphyria (VP) are mixed porphyrias since they can present acute and/or cutaneous symptoms. Read More

Mol Genet Metab 2018 Oct 9. Epub 2018 Oct 9.

UMRs 1149, Centre de Recherche sur l'Inflammation, Institut National de la Santé et de la Recherche Médicale, F-75018 Paris, France; Assistance Publique-Hôpitaux de Paris, HUPNVS Centre Français des Porphyries, Hôpital Louis Mourier, 178 Rue des Renouillers, F-92701 Colombes, France; Laboratory of Excellence Gr-Ex, France; Université Paris Diderot, UFR de Médecine Xavier Bichat, F-75018 Paris, France.

Porphyrias are inherited diseases with low penetrance affecting the heme biosynthesis pathway. Acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP) together constitute the acute hepatic porphyrias (AHP). These diseases have been identified as risk factors for primary liver cancers (PLC), mainly hepatocellular carcinoma (HCC: range 87-100%) but also cholangiocarcinoma, alone or combination with HCC. Read More

Mol Genet Metab 2018 Oct 26. Epub 2018 Oct 26.

Icahn School of Medicine at Mount Sinai, Department of Genetics and Genomic Sciences, New York, NY 10029, USA. Electronic address:

The acute hepatic porphyrias (AHPs) are inborn errors of heme biosynthesis, which include three autosomal dominant porphyrias, Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), and Variegate Porphyria (VP), and the ultra-rare autosomal recessive porphyria, δ-Aminolevulinic Acid Dehydratase Deficiency Porphyria (ADP). AIP, HCP, VP, and ADP each results from loss-of-function (LOF) mutations in their disease-causing genes: hydroxymethylbilane synthase (HMBS); coproporphyrinogen oxidase (CPOX); protoporphyrinogen oxidase (PPOX), and δ-aminolevulinic acid dehydratase (ALAD), respectively. During the 11-year period from January 1, 2007 through December 31, 2017, the Mount Sinai Porphyrias Diagnostic Laboratory diagnosed 315 unrelated AIP individuals with HMBS mutations, including 46 previously unreported mutations, 29 unrelated HCP individuals with CPOX mutations, including 11 previously unreported mutations, and 54 unrelated VP individuals with PPOX mutations, including 20 previously unreported mutations. Read More

Internist (Berl) 2018 Dec;59(12):1239-1248

MVZ Labor PD Dr. Volkmann und Kollegen GbR, 76133, Karlsruhe, Deutschland.

Porphyrias are caused by enzyme defects of heme biosynthesis. According to their clinical presentation and to each affected pathway, they are categorized into acute and non-acute as well as hepatic and erythropoietic porphyrias. Acute hepatic porphyrias, e. Read More

Ann Clin Biochem 2018 Sep 27;55(5):616-619. Epub 2018 Apr 27.

1 Department of General Medicine, Wellington Hospital, Wellington, New Zealand.

A 21-year-old female had recurrent presentations to the emergency department with myalgia, vomiting, abdominal pain and subsequently developed generalized seizures. She was volume depleted with a plasma sodium of 125 mmol/L (reference interval: 135-145) and she had fluctuating hypertension. Acute porphyria was suspected and confirmed with raised urine porphobilinogen/creatinine ratio of 12:4 μmol/mmoL (reference interval < 1:5) and she was treated with intravenous haem arginate. Read More

Rambam Maimonides Med J 2018 04 19;9(2). Epub 2018 Apr 19.

Porphyria Center, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.

The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme. Neurovisceral porphyrias are characterized by acute attacks, in which excessive heme production is induced following exposure to a trigger. An acute attack usually presents with severe abdominal pain, vomiting, and tachycardia. Read More

F1000Res 2017 30;6:1906. Epub 2017 Oct 30.

Scottish Cutaneous Porphyria Service, Scottish Photodiagnostic Unit, Department of Dermatology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK.

This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature. The cutaneous porphyrias are a diverse group of conditions due to inherited or acquired enzyme defects in the porphyrin-haem biosynthetic pathway. Read More

J Intern Med 2017 09 20;282(3):229-240. Epub 2017 Jul 20.

Centre for Disease Burden, Domain for Mental and Physical Health, Norwegian Institute of Public Health, Bergen, Norway.

Background: Acute hepatic porphyria (AHP) is considered to be a risk factor for primary liver cancer (PLC), but varying risk estimates have been published.

Objectives: Our aim was to investigate the risk of PLC and other cancers in persons with AHP using a nationwide cohort design. Given that greater numbers of women than men tend to have manifest and more severe AHP, a further aim was to investigate sex differences in this risk. Read More

Dis Model Mech 2017 08 9;10(8):1005-1013. Epub 2017 Jun 9.

Australian Centre for Blood Diseases, Monash University and Clinical Haematology, Alfred Health, Melbourne 3004, Australia

A genome-wide ethyl-N-nitrosourea (ENU) mutagenesis screen in mice was performed to identify novel regulators of erythropoiesis. Here, we describe a mouse line, RBC16, which harbours a dominantly inherited mutation in the gene, responsible for production of the haem biosynthesis enzyme, coproporphyrinogen III oxidase (CPOX). A premature stop codon in place of a tryptophan at amino acid 373 results in reduced mRNA expression and diminished protein levels, yielding a microcytic red blood cell phenotype in heterozygous mice. Read More

JIMD Rep 2017 28;37:99-106. Epub 2017 Mar 28.

Department of Pediatrics, Okayama University Hospital, Shikatacho 2-5-1, Kita-ku, Okayama, 700-8558, Japan.

Genetic mutation of the coproporphyrinogen oxidase (CPOX) gene causes either hereditary coproporphyria (HCP) or harderoporphyria. HCP, a rare hepatic porphyria, causes acute attacks after puberty and rarely accompanies cutaneous symptoms. In contrast, harderoporphyria is an erythropoietic porphyria that represents photosensitivity and hemolytic anemia from the neonatal period. Read More

Br J Haematol 2017 02 16;176(4):527-538. Epub 2016 Dec 16.

Department of Haematological Medicine, King's College Hospital, London, UK.

Acute porphyrias are rare inherited disorders due to deficiencies of haem synthesis enzymes. To date, all UK cases have been one of the three autosomal dominant forms, although penetrance is low and most gene carriers remain asymptomatic. Clinical presentation is typically with acute neurovisceral attacks characterised by severe abdominal pain, vomiting, tachycardia and hypertension. Read More

Indian J Gastroenterol 2016 Nov 31;35(6):405-418. Epub 2016 Oct 31.

Department of Internal Medicine, UAB University of Alabama in Birmingham, Birmingham, AL, USA.

Porphyrias are a group of metabolic disorders, which result from a specific abnormality in one of the eight enzymes of the heme biosynthetic pathway. These have been subdivided based on the predominant site of enzyme defect into hepatic and erythropoietic types and based on clinical presentation into acute neurovisceral and cutaneous blistering porphyrias. This review focuses on hepatic porphyrias, which include acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), aminolevulinic acid dehydratase deficiency porphyria (ADP), and porphyria cutanea tarda (PCT). Read More

AIDS 2016 08;30(13):2142-3

Brighton and Sussex University Hospitals NHS Trust, Brighton, UK.

Acta Derm Venereol 2016 Nov;96(7):868-872

Department of Clinical Biochemistry and Pharmacology, Odense University Hospital, 5000 Odense C, Denmark.

Porphyrias are rare diseases caused by altered haem synthesis leading to the accumulation of different haem intermediates. Neurovisceral attacks may occur in acute porphyrias, while photosensitivity is the presenting symptom in cutaneous porphyrias. We present here an overview of symptoms and a flowchart for the diagnosis of cutaneous porphyrias, with recommendations for monitoring and an update of treatment options. Read More

Hautarzt 2016 Mar;67(3):221-5

Hautklinik und Europäisches Porphyriezentrum, Universitätsklinikum der Heinrich-Heine-Universität Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland.

Porphyrias comprise a heterogeneous group of predominantly genetically determined metabolic diseases which are due to a dysfunction in heme biosynthesis. Variegate porphyria and hereditary coproporphyria are referred to as neurocutaneous porphyrias because affected patients can develop both cutaneous symptoms on light-exposed body sites and potentially life-threatening acute neurovisceral symptoms, thereby mimicking several other diseases. In this overview, we provide an update on pathogenesis, clinical manifestation, diagnosis, and therapy of these two types of porphyria. Read More

Endocr Metab Immune Disord Drug Targets 2016 ;16(1):39-46

Interdisciplinary Department of Medicine, Section of Internal Medicine, Geriatrics, Endocrinology and Rare Diseases, University of Bari "Aldo Moro", Bari, Italy.

Background: Hereditary Coproporphyria (HCP) is characterized by abdominal pain, neurologic symptoms and psychiatric disorders, even if it might remain asymptomatic. The pathophysiology of both neurologic and psychiatric symptoms is not fully understood. Therefore, aiming to evaluate a possible role of brain blood flow disorders, we have retrospectively investigated cerebral perfusion patterns in Single Photon Emission Computed Tomography (SPECT) studies in HCP patients. Read More

Hypertension 2015 Dec 19;66(6):1093-7. Epub 2015 Oct 19.

From the Hypertension Clinic, Department of Internal Medicine, Clinical Hospital of Valencia, INCLIVA, University of Valencia, Valencia, Spain (G.P., F.M., C.F., J.R.); and CIBER de la Fisiopatología de la Obesidad y Nutrición (CIBERObn), Carlos III Health Institute, Madrid, Spain (F.M., J.R.).

J Emerg Med 2015 Sep 7;49(3):305-12. Epub 2015 Jul 7.

Department of Medicine, University of Connecticut, Farmington, Connecticut; Department of Medicine, University of North Carolina, Chapel Hill, North Carolina.

Background: Porphyrias are a group of eight metabolic disorders characterized by defects in heme biosynthesis. Porphyrias are classified into two major categories: 1) the acute or inducible porphyrias and 2) the chronic cutaneous porphyrias. The acute hepatic porphyrias are further classified into acute intermittent porphyria (AIP), hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of delta-aminolevulinic acid (ALA) dehydratase (ALADP). Read More

Curr Protoc Hum Genet 2015 Jul 1;86:17.20.1-26. Epub 2015 Jul 1.

Department of Preventive Medicine and Community Health, The University of Texas Medical Branch, Galveston, Texas.

Porphyria diseases are a group of metabolic disorders caused by abnormal functioning of heme biosynthesis enzymes and characterized by excessive accumulation and excretion of porphyrins and their precursors. Precisely which of these chemicals builds up depends on the type of porphyria. Porphyria is not a single disease but a group of nine disorders: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), δ-aminolevulinic acid dehydratase deficiency porphyria (ADP), porphyria cutanea tarda (PCT), hepatoerythropoietic porphyria (HEP), congenital erythropoietic porphyria (CEP), erythropoietic protoporphyria (EPP), and X-linked protoporphyria (XLP). Read More

J Gen Intern Med 2015 Jun 10;30(6):856-9. Epub 2015 Feb 10.

Albert Einstein College of Medicine, Bronx, NY, USA,

We report the case of a young male presenting with cholestatic liver failure. After an extensive workup, the etiology of the liver failure was determined to be due to hereditary coprophorphyria (HCP). The inciting event was the use of Hydroxycut™, an over-the-counter supplement to promote weight loss that has been reported to cause oxidative liver injury in vulnerable populations. Read More

Int J Dermatol 2015 Mar 17;54(3):e87-8. Epub 2014 Dec 17.

Department of Dermatology, Warwick Hospital, Warwick, UK.

Postgrad Med 2014 Nov;126(7):108-20

Centre for Porphyrias and Diseases from Disturbances of Amino Acid Metabolism, Division of Internal Medicine II, Department of Medical and Surgical Sciences for Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.

The porphyrias are a group of metabolic diseases caused by inherited or acquired enzymatic deficiency in the metabolic pathway of heme biosynthesis. Simplistically, they can be considered as storage diseases, because the partial enzymatic defect gives rise to a metabolic "bottleneck" in the biosynthetic pathway and hence to an accumulation of different metabolic intermediates, potentially toxic and responsible for the various (cutaneous or neurovisceral) clinical manifestations observed in these diseases. In the acute porphyrias (acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and the very rare delta-aminolevulinic acid dehydratase ALAD-d porphyria), the characteristic severe neurovisceral involvement is mainly ascribed to a tissue accumulation of delta-aminolevulinic acid, a neurotoxic nonporphyrin precursor. Read More

Am J Med 2014 Dec 10;127(12):1233-41. Epub 2014 Jul 10.

Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.

Background: Recent descriptions of the clinical and laboratory features of subjects with acute porphyrias in the US are lacking. Our aim was to describe clinical, biochemical, and genetic features of 108 subjects.

Methods: Between September 2010 and December 2012, 108 subjects with acute porphyrias (90 acute intermittent porphyrias, 9 hereditary coproporphyrias, 9 variegate porphyrias) were enrolled into an observational study. Read More

JIMD Rep 2014 6;16:57-64. Epub 2014 Jul 6.

Clinic of Gastroenterology and Hepatology, University Hospital "Saint Ivan Rislki", Sofia, Bulgaria,

Acute intermittent porphyria (AIP), variegate porphyria (VP), and hereditary coproporphyria (HCP) are caused by mutations in the hydroxymethylbilane synthase (HMBS), protoporphyrinogen oxidase (PPOX), and coproporphyrinogen oxidase (CPOX) genes, respectively. This study aimed to identify mutations in seven Bulgarian families with AIP, six with VP, and one with HCP. A total of 33 subjects, both symptomatic (n = 21) and asymptomatic (n = 12), were included in this study. Read More

Dermatol Clin 2014 Jul 5;32(3):369-84, ix. Epub 2014 May 5.

Department of Medical Biochemistry and Immunology, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK; Institute of Molecular and Experimental Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff, Wales CF14 4XN, UK.

The porphyrias are a group of mainly inherited disorders of heme biosynthesis where accumulation of porphyrins and/or porphyrin precursors gives rise to 2 types of clinical presentation: cutaneous photosensitivity and/or acute neurovisceral attacks. The cutaneous porphyrias present with either bullous skin fragility or nonbullous acute photosensitivity. This review discusses the epidemiology, pathogenesis, clinical presentation, laboratory diagnosis, complications, and current approach to porphyria management. Read More

Eur J Intern Med 2014 Jul 5;25(6):497-505. Epub 2014 May 5.

Centre for Porphyrias, Division of Internal Medicine II, Department of Medical and Surgical Science - University of Modena and Reggio Emilia, Policlinico Hospital, Modena, Italy.

Acute porphyrias are a heterogeneous group of metabolic disorders resulting from a variable catalytic defect of four enzymes out of the eight involved in the haem biosynthesis pathway; they are rare and mostly inherited diseases, but in some circumstances, the metabolic disturbance may be acquired. Many different environmental factors or pathological conditions (such as drugs, calorie restriction, hormones, infections, or alcohol abuse) often play a key role in triggering the clinical exacerbation (acute porphyric attack) of these diseases that may often mimic many other more common acute medical and neuropsychiatric conditions and whose delayed diagnosis and treatment may be fatal. In order to obtain an accurate diagnosis of acute porphyria, the knowledge and the use of appropriate diagnostic tools are mandatory, even in order to provide as soon as possible the more effective treatment and to prevent the use of potentially unsafe drugs, which can severely precipitate these diseases, especially in the presence of life-threatening symptoms. Read More

Hepatology 2014 Sep 29;60(3):1082-9. Epub 2014 Jul 29.

Division of Gastroenterology and Hepatology, University of Alabama (UAB), Birmingham, AL.

Unlabelled: Porphyrias are a group of eight metabolic disorders, each resulting from a mutation that affects an enzyme of the heme biosynthetic pathway. Porphyrias are classified as hepatic or erythropoietic, depending upon the site where the gene defect is predominantly expressed. Clinical phenotypes are classified as follows: (1) acute porphyrias with neurovisceral symptoms: acute intermittent porphyria; delta amino-levulinic acid hydratase deficiency porphyria; hereditary coproporphyria; and variegate porphyria and (2) cutaneous porphyrias with skin blistering and photosensitivity: porphyria cutanea tarda; congenital erythropoietic porphyria; hepatoerythropoietic porphyria and both erythropoietic protoporphyrias: autosomal dominant and X-linked. Read More

Neuropsychopharmacol Hung 2014 Mar;16(1):43-6

Nyírő Gyula Hospital, 1st Department of Psychiatry, Budapest, Hungary.

Objective: We report a successful treatment with lamotrigine of a patient with hereditary coproporphyria presenting with affective and psychotic symptoms.

Case Report: M.F. Read More

Handb Clin Neurol 2014 ;120:839-49

Mayo Clinic, Department of Neurology, Rochester, MN, USA. Electronic address:

Porphyrias are rare disorders resulting from a defect in the heme biosynthetic pathway. They can produce significant disease of both the peripheral and central nervous systems, in addition to other organ systems, with acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria as the subtypes associated with neurologic manifestations. The presence of a motor-predominant peripheral neuropathy (axonal predominant), accompanied by gastrointestinal distress and neuropsychiatric manifestations, should be a strong clue to the diagnosis of porphyria. Read More

Pak J Med Sci 2013 Apr;29(2):672-4

Wen-Hsiu Hsu, Department of Internal Medicine, Taichung Armed Forces General Hospital, Taichung, Taiwan, Republic of China.

Acute porphyrias are rare diseases with varying incidences worldwide. These diseases are disorders of heme biosynthesis characterized by acute attacks of neurological symptoms. Acute porphyria should be considered in patients with unexplained abdominal pain or neurological damage. Read More

Transplant Proc 2013 ;45(10):3703-4

Department of Transplantation and Surgery, Semmelweis University, Budapest, Hungary. Electronic address:

Background: The porphyrias are a group of disorders of the heme biosynthesis pathway that may present with acute life-threatening attacks, commonly exacerbated by a wide variety of medications. Many newer immunosuppressive medications, which are in use following kidney transplantation, have not been fully explored in acute porphyrias.

Case Report: A 53-year-old woman received a kidney from a deceased donor, after being on hemodialysis for 4 years. Read More

Int J Dermatol 2013 Dec;52(12):1464-80

Department of Dermatology, Baylor University Medical Center, Dallas, TX, USA.

The porphyrias are a group of disorders characterized by defects in the heme biosynthesis pathway. Many present with skin findings including photosensitivity, bullae, hypertrichosis, and scarring. Systemic symptoms may include abdominal pain, neuropsychiatric changes, anemia, and liver disease. Read More

Med Pregl 2013 Sep-Oct;66(9-10):411-5

Klinicki centar Vojvodine, Novi Sad, Klinika za gastroenterologiju i hepatologiju.

Introduction: Acute hepatic porphyrias can mimic a range of unrelated diseases and conditions that may occur independently of porphyria and trigger their initial manifestations and further attacks.

Case Report: A 46-year-old female patient was subjected to cholecystectomy for biliary colic. Histopathological analysis revealed acute purulent exacerbation of chronic cholecystitis. Read More

Tremor Other Hyperkinet Mov (N Y) 2013 25;3. Epub 2013 Jul 25.

Section of Neurology, Hospital Universitario del Sureste, Arganda del Rey, Madrid, Spain.

Background: Hereditary coproporphyria (HCPO) is a low-penetrance, autosomal dominant, acute hepatic porphyria characterized by the overproduction and excretion of coproporphyrin. The most common neurological manifestations of this entity include peripheral, predominantly motor dysfunction, and central nervous system dysfunction. Ataxia associated with HCPO has not been reported previously. Read More

J Biochem 2013 Dec 26;154(6):551-9. Epub 2013 Sep 26.

Department of Biotechnology; and Department of Bio-molecular Engineering, Kyoto Institute of Technology, Kyoto 606-8585, Japan.

Hereditary coproporphyria (HCP) is an autosomal dominant-inherited disease of haem biosynthesis caused by partial deficiency of the enzyme coproporphyrinogen oxidase (CPOX). Patients with HCP show <50% of normal activity and those with the rare autosomal recessive harderoporphyria accumulate harderoporphyrinogen, an intermediate porphyrin of the CPOX reaction. To clarify the relationship of the low enzyme activity with these diseases, we expressed mutant CPOX carrying His-tag from these porphyria patients and co-expressed mutant CPOX carrying His-tag and normal CPOX carrying HA-tag in a tandem fashion in Escherichia coli. Read More

Case Rep Neurol 2013 May 29;5(2):116-24. Epub 2013 Jun 29.

Service de Neurologie, Hôpital Notre-Dame, Centre Hospitalier Universitaire de Montréal, Montréal, Qué., Canada.

Purpose: The porphyrias are a defect in the biosynthesis of heme which can be associated with different neurological symptoms during acute attacks such as peripheral neuropathy, mental disturbance and seizures. So far, there have only been a few case reports of status epilepticus, none of which were of epilepsia partialis continua (EPC). We present here two cases of hereditary coproporphyria (HCP) manifesting EPC as part of the clinical presentation. Read More

Ann Clin Biochem 2013 May;50(Pt 3):204-16

Department of Medical Biochemistry and Immunology, University Hospital of Wales and Institute of Molecular and Experimental Medicine, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK.

The porphyrias are a group of mainly inherited metabolic conditions that result from partial deficiency of individual enzymes in the haem biosynthesis pathway. Clinical presentation is either with acute neurovisceral attacks, skin photosensitivity or both, and is due to overproduction of pathway intermediates. The primary diagnosis in the proband is based on biochemical testing of appropriate samples, preferably during or soon after onset of symptoms. Read More

Ann Clin Biochem 2013 May;50(Pt 3):217-23

Department of Medicine, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.

The British and Irish Porphyria Network guidelines describe best practice in the clinical assessment, investigation and management of acute porphyria attacks and their complications, including severe attacks with neuropathy. Acute attacks of porphyria may occur in acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP). Aminolaevulinic acid dehydratase deficiency porphyria (ADP) is a very rare autosomal recessive porphyria; only six cases substantiated by mutation analysis have yet been described in the literature. Read More

Australas J Dermatol 2013 May 21;54(2):e50-2. Epub 2012 Mar 21.

Departments of Dermatology and Biochemistry, Private Medical Centre, Department of Genetic Medicine, The Royal Melbourne Hospital, and Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia.

The porphyrias are a group of inherited disorders that result in defects in the enzymes of the haem biosynthetic pathway, causing photosensitive bullous skin eruptions or abdominal and neurological attacks. Enzymatic defects result in specific porphyrin excretory patterns that are diagnosed biochemically and can be confirmed by genetic testing. Defects in the coproporphyrinogen oxidase (CPOX) enzyme result in the autosomal dominant hereditary coproporphyria. Read More

Pract Neurol 2012 Dec;12(6):384-7

Department of Clinical Neurosciences, Royal Free Hampstead NHS Trust, London, UK.

Acute porphyria, though rare, has well-known neurological sequelae. Vasospasm rarely complicates exacerbations of acute intermittent porphyria, but has not been previously reported in hereditary coproporphyria. We describe a porphyric crisis in a woman with previously undiagnosed hereditary coproporphyria (triggered by rifampicin), leading to vasospasm and stroke. Read More

J Inherit Metab Dis 2013 Sep 1;36(5):849-57. Epub 2012 Nov 1.

Department of Medical Biochemistry and Immunology, University Hospital of Wales, Cardiff, CF14 4XW, UK.

Retrospective estimates of the prevalence of porphyrias have been reported but there has been no large scale prospective study of their incidence. The European Porphyria Network collected information prospectively over a 3 year period about the number of newly diagnosed symptomatic patients with an inherited porphyria (335 patients from 11 countries). Prevalence was calculated from the incidence and mean disease duration. Read More

J Invest Dermatol 2011 Nov 7;131(11):2249-54. Epub 2011 Jul 7.

Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands.

The simultaneous dysfunction of two enzymes within the heme biosynthetic pathway in a single patient is rare. Not more than 15 cases have been reported. A woman with a transient episode of severe photosensitivity showed a biochemical porphyrin profile suggestive of hereditary coproporphyria (HCP), whereas some of her relatives had a profile that was suggestive of variegate porphyria (VP). Read More

Australas J Dermatol 2011 May 29;52(2):135-8. Epub 2011 Mar 29.

Departments of Dermatology Gastroenterology, The Royal Melbourne Hospital, Parkville, Victoria, Australia.

A 35-year-old woman presented with skin fragility and photosensitivity with blisters affecting her face and hands. Other symptoms included intermittent headache, fatigue, abdominal pain and nausea. Porphyrin studies were markedly raised, with features consistent with hereditary coproporphyria (HCP). Read More

Hum Genet 2010 Apr;127(4):489-90

Dipartimento di Medicina Interna, Fondazione Ospedale Maggiore Policlinico MARE IRCCS-Università degli Studi di Milano, Milano, Italy.

Clin Genet 2012 Mar 6;81(3):249-56. Epub 2011 Feb 6.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

Hereditary coproporphyria (HCP) is an autosomal dominantly inherited hepatic porphyria, caused by a mutation in the coproporphyrinogen oxidase (CPOX) gene. The genetic defect leads to a partial defect of CPOX, the sixth enzyme involved in haem biosynthesis. Affected individuals can develop acute life-threatening attacks of neurovisceral symptoms and/or more rarely cutaneous symptoms such as skin fragility and blistering. Read More

Prim Care Companion CNS Disord 2011 ;13(6)

Department of Internal Medicine and Psychiatry (Drs Jain and Resch), Department of Psychiatry (Dr Bennett), and Department of Internal Medicine, Division of Hematology and Oncology, Simmons Cancer Institute (Dr Godwin), Southern Illinois University School of Medicine, Springfield.

Acute porphyrias are often misdiagnosed and most commonly present as atypical neuropsychiatric symptoms or acute abdominal pain. Clinicians should suspect acute porphyrias in patients presenting with variable neuropsychiatric symptoms and unexplained pain. Proper identification can lead to less iatrogenicity associated with porphyrinogenic agents, appropriate management, and a better patient outcome. Read More

Internist (Berl) 2010 Dec;51(12):1525-33; quiz 1534

Klinik für Innere Medizin II, Porphyrie Zentrum Sachsen, Klinikum Chemnitz gGmbH, Chemnitz, Germany.

Porphyrias are metabolic disorders of the heme biosynthesis. Clinically, they can be differentiated into acute and non-acute porphyrias. The symptomatic phase of acute hepatic porphyrias is characterized by overproduction of neurotoxic porphyrin precursors and porphyrins. Read More

J Inherit Metab Dis 2011 Feb 20;34(1):225-31. Epub 2010 Nov 20.

Department of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, Turkey.

Hereditary coproporphyria (HCP) is an autosomal dominant acute hepatic porphyria due to the half-normal activity of the heme biosynthetic enzyme, coproporphyrinogen oxidase (CPOX). The enzyme catalyzes the step-wise oxidative decarboxylation of the heme precursor, coproporphyrinogen III, to protoporphyrinogen IX via a tricarboxylic intermediate, harderoporphyrinogen. In autosomal dominant HCP, the deficient enzymatic activity results primarily in the accumulation of coproporphyrin III. Read More