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Orphanet J Rare Dis 2020 Feb 21;15(1):56. Epub 2020 Feb 21.

Norwegian Organisation for Quality Improvement of Laboratory Examinations (NOKLUS), Haraldsplass Deaconess Hospital, Bergen, Norway.

Background: Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We investigated the risk of long-term sick leave, disability pension, and premature death in individuals with AHP compared to the general population.

Methods: In a nationwide cohort study from 1992 to 2017, records of 333 persons (total person-years = 6728) with a confirmed AHP diagnosis were linked to several national compulsory registries (reference population = 5,819,937). Read More

Ann Hematol 2019 Dec 19;98(12):2683-2691. Epub 2019 Nov 19.

EPNET Clinical Center Munich, Hematology Oncology Center and Ludwig Maximilians University Munich, Zweibrückenstr.2, 80331, Munich, Germany.

In Germany, analyses of clinical and laboratory features of patients with acute porphyrias are only available for hereditary coproporphyria (HCP) but not with other acute porphyrias, acute intermittent porphyria (AIP) and variegate porphyria (VP). The aim of the study was to analyze a large cohort of patients with particular focus upon quality of life aspects. Sixty-two individuals from separate families with acute porphyrias (57 AIP, 5 VP) were included into an observational study collecting biochemical, genetic, and clinical data. Read More

Mol Genet Metab 2019 11 1;128(3):242-253. Epub 2019 Nov 1.

Section on Gastroenterology & Hepatology, Wake Forest University School of Medicine/NC Baptist Hospital, Winston-Salem, United States of America.. Electronic address:

Background And Aim: An association between neuropsychiatric manifestations and neuroimaging suggestive of posterior reversible encephalopathy syndrome (PRES) during porphyric attacks has been described in numerous case reports. We aimed to systematically review clinical-radiological features and likely pathogenic mechanisms of PRES in patients with acute hepatic porphyrias (AHP) and porphyric attacks.

Methods: PubMed, Scopus, Ovid MEDLINE, and Google Scholar were searched (July 30, 2019). Read More

Int J Neurosci 2019 Dec 1;129(12):1226-1233. Epub 2019 Sep 1.

Department of Physiology and Biophysics, Stony Brook University Renaissance School of Medicine , New York , NY , USA.

Porphyrias are inherited disorders of the heme biosynthetic pathway, usually characterized by dermatological changes due to the accumulation of byproducts in the pathway. Select porphyrias also affect the nervous system, namely hereditary coproporphyria, acute intermittent porphyria and variegate porphyria. Complications include paralysis, hyponatremia which can risk central pontine myelinolysis, seizures and coma. Read More

Mol Genet Metab 2019 11 22;128(3):164-177. Epub 2019 Apr 22.

Division of Hematology, Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT, United States of America. Electronic address:

Porphyrias, is a general term for a group of metabolic diseases that are genetic in nature. In each specific porphyria the activity of specific enzymes in the heme biosynthetic pathway is defective and leads to accumulation of pathway intermediates. Phenotypically, each disease leads to either neurologic and/or photocutaneous symptoms based on the metabolic intermediate that accumulates. Read More

J Eur Acad Dermatol Venereol 2020 Jan 16;34(1):184-187. Epub 2019 Jul 16.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Background: From a dermatologist's perspective, there are four major types of cutaneous porphyrias (CPs): porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP), variegate porphyria (VP) and hereditary coproporphyria (HCP). Scarce data are available regarding the epidemiology of CPs.

Objectives: To describe the epidemiology of CPs in Israel, including distribution, incidence and prevalence rates of major types. Read More

Scand J Clin Lab Invest 2019 Sep 1;79(5):305-313. Epub 2019 Jun 1.

a Institute of Laboratory Medicine, Triemli Hospital , Zurich , Switzerland.

Molecular diagnosis of autosomal dominant acute hepatic porphyrias (AHPs) plays an important role in the management of these disorders. To introduce next generation sequencing (NGS) to the porphyria diagnosis, we designed a panel that contained four genes, , and for mutational analysis of acute intermittent porphyria (AIP), hereditary coproporphyria (HCP) and variegate porphyria (VP). To validate the AHP panel, 30 samples with known pathogenic variants as determined by Sanger sequencing, were analyzed using the Ion PGM™. Read More

Mol Genet Metab 2019 11 20;128(3):228-235. Epub 2019 May 20.

Section on Gastroenterology & Hepatology, Wake Forest University/NC Baptist Medical Center, Winston-Salem, NC, United States of America. Electronic address:

Background And Aims: The acute porphyrias are characterized by defects in heme synthesis, particularly in the liver. In some affected patients, there occurs a critical deficiency in a regulatory heme pool within hepatocytes that leads to up-regulation of 5-aminolevulinic acid [ALA] synthase-1, which is the first and normally rate-controlling enzyme in the pathway. In earlier work, we described defects in mitochondrial functions in cultured skin fibroblasts from patients with acute intermittent porphyria [AIP]. Read More

Gastroenterology 2019 08 11;157(2):365-381.e4. Epub 2019 May 11.

Institute of Translational Immunology and Research Center for Immune Therapy, University Medical Center, Johannes Gutenberg University, Mainz, Germany; Division of Gastroenterology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts. Electronic address:

Physicians should be aware of porphyrias, which could be responsible for unexplained gastrointestinal, neurologic, or skin disorders. Despite their relative rarity and complexity, most porphyrias can be easily defined and diagnosed. They are caused by well-characterized enzyme defects in the complex heme biosynthetic pathway and are divided into categories of acute vs non-acute or hepatic vs erythropoietic porphyrias. Read More

Genet Med 2019 11 10;21(11):2605-2613. Epub 2019 May 10.

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

With the advent of precision and genomic medicine, a critical issue is whether a disease gene variant is pathogenic or benign. Such is the case for the three autosomal dominant acute hepatic porphyrias (AHPs), including acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria, each resulting from the half-normal enzymatic activities of hydroxymethylbilane synthase, coproporphyrinogen oxidase, and protoporphyrinogen oxidase, respectively. To date, there is no public database that documents the likely pathogenicity of variants causing the porphyrias, and more specifically, the AHPs with biochemically and clinically verified information. Read More

Mol Genet Metab 2019 11 6;128(3):213-218. Epub 2019 Mar 6.

Section on Gastroenterology & Hepatology, Wake Forest University School of Medicine/NC Baptist Hospital, Winston-Salem, NC 27157, United States of America.

The acute hepatic porphyrias include four disorders: acute intermittent porphyria [AIP], hereditary coproporphyria [HCP], variegate porphyria [VP], and the rare porphyria due to severe deficiency of ALA dehydratase [ADP]. In the USA, AIP is the most severe and most often symptomatic. AIP, HCP, and VP are due to autosomal dominant genetic abnormalities, in which missense, nonsense, or other mutations of genes of normal hepatic heme biosynthesis, in concert with other environmental, nutritional, hormonal and genetic factors, may lead to a critical deficiency of heme, the end-product of the pathway, in a small but critical 'regulatory pool' within hepatocytes. Read More

Gastroenterol Hepatol 2019 Aug - Sep;42(7):438-439. Epub 2019 Apr 1.

Servicio de Medicina Interna, Hospital San Cecilio, Granada, España.

Hepatol Commun 2019 Feb 20;3(2):193-206. Epub 2018 Dec 20.

Section of Gastroenterology and Hepatology, Department of Internal Medicine Wake Forest University School of Medicine Winston-Salem NC.

The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms. The four types are 5-aminolevulinic acid (ALA) dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria. Their diagnoses are often missed or delayed because the clinical symptoms mimic other more common disorders. Read More

Mol Genet Metab 2019 11 18;128(3):332-341. Epub 2019 Jan 18.

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

Mouse models of the human porphyrias have proven useful for investigations of disease pathogenesis and to facilitate the development of new therapeutic approaches. To date, mouse models have been generated for all major porphyrias, with the exception of X-linked protoporphyria (XLP) and the ultra rare 5-aminolevulinic acid dehydratase deficient porphyria (ADP). Mouse models have been generated for the three autosomal dominant acute hepatic porphyrias, acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP). Read More

Ann Dermatol Venereol 2019 Feb 30;146(2):143-159. Epub 2019 Jan 30.

Service de dermatologie, CHR Metz-Thionville, 1, allée du Château, CS 45001, 57085 Metz cedex 03, France. Electronic address:

The porphyrias are a group of metabolic disorders resulting from an innate abnormality in haem biosynthesis, and the clinical settings of which vary according to the genetic enzyme abnormality in question. These are genetic disorders with autosomal dominant or recessive inheritance of varying penetrance, and whose clinical expression differs according to the preferential location of haem precursors. Different classifications have been proposed according to genetic inheritance, the enzyme anomaly at issue, and clinical expression. Read More

Mol Genet Metab 2019 11 30;128(3):320-331. 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 2019 Dec 23;62(12):103589. 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 2019 11 9;128(3):236-241. 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 2019 11 26;128(3):352-357. 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

J Hematol 2017 Mar 21;6(1):21-24. Epub 2017 Mar 21.

Department of Hematology/Oncology, Rhode Island Hospital, Providence, RI, USA.

Hereditary coproporphyria (HCP) is the third most common of the acute porphyrias, after acute intermittent porphyria and variegate porphyria. It is caused by decreased activity of the sixth step in the heme biosynthetic pathway. Here we present a case of a woman with HCP who has experienced a wide variety of symptoms over several years. 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;86:17.20.1-17.20.26. 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