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Mol Med Rep 2020 Jul 4;22(1):516-524. Epub 2020 May 4.

Department of Hematology and Oncology, The Third Affiliated Hospital of The Second Military Medical University, Shanghai 200438, P.R. China.

Acute intermittent porphyria (AIP) is a rare inherited disorder, which is caused by the partial deficiency of hydroxymethylbilane synthase (HMBS), an enzyme of the heme biosynthetic pathway. Abdominal pain, neuropsychiatric disturbance and neuropathy are the typical manifestations of the disease. Complications such as posterior reversible encephalopathy syndrome (PRES), a rare type of brain lesion present on MRI, are also observed in patients with AIP. Read More

Intern Emerg Med 2020 May 6. Epub 2020 May 6.

Rheumatology Unit, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel.

Acute hepatic porphyria (AHP) attacks begin with abdominal pain and can progress to severe life-threatening conditions. Early diagnosis and treatment may prevent these complications. We investigated the difference between the severity of porphyria attacks before and after porphyria diagnosis. Read More

Zh Nevrol Psikhiatr Im S S Korsakova 2020 ;120(3):60-66

Pirogov Russian National Research Medical University, Moscow, Russia.

The authors describe a clinical case of posterior reversible encephalopathy syndrome (PRES) in a 36-year-old female patient due to the first onset of not previously diagnosed acute intermittent porphyria. Only 22 clinical and radiological cases of the combination of PRES and acute porphyria were reported in the literature by 2018. This is the first report of a similar association confirmed by magnetic resonance imaging (MRI) in the Russian literature. Read More

Orphanet J Rare Dis 2020 Apr 19;15(1):98. Epub 2020 Apr 19.

Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Background: Reversible splenial lesion syndrome (RESLES) is a clinico-radiological syndrome characterized by the presence of reversible lesions specifically involving the splenium of the corpus callosum (SCC). The cause of RESLES is unknown. However, infectious-related mild encephalitis/encephalopathy (MERS) with a reversible splenial lesion remains the most common cause of reversible splenial lesions. Read More

Biomedica 2020 03 1;40(1):14-19. Epub 2020 Mar 1.

Escuela de Medicina, Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia; Servicio de Medicina Interna, Hospital San Rafael, Tunja, Colombia.

The term ‘porphyria’ comes from the Greek ‘porphyra’. It refers to a heterogeneous group of metabolic disorders caused by the enzymatic deficiency in the biosynthesis of the heme group. Acute intermittent porphyria is caused by a deficiency of the porphobilinogen deaminase enzyme. Read More

Acta Neuropathol Commun 2020 03 20;8(1):38. Epub 2020 Mar 20.

Department of Neurophysiology and Neuropharmacology, Center of Physiology and Pharmacology, Medical University of Vienna, Schwarzspanierstrasse, 17, A-1090, Vienna, Austria.

Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of heme biosynthesis due to a pathogenic mutation in the Hmbs gene, resulting in half-normal activity of hydroxymethylbilane synthase. Factors that induce hepatic heme biosynthesis induce episodic attacks in heterozygous patients. The clinical presentation of acute attacks involves the signature neurovisceral pain and may include psychiatric symptoms. Read More

Br J Pharmacol 2020 Mar 4. Epub 2020 Mar 4.

Department of Pharmaceutical Technology and Chemistry, School of Pharmacy and Nutrition, University of Navarra, Pamplona, Spain.

Background And Purpose: Acute intermittent porphyria (AIP) results from haplo-insufficiency of the porphobilinogen deaminase (PBGD) gene encoding the third enzyme in the haem biosynthesis pathway. As liver is the main organ of pathology for AIP, emerging therapies that restore enzyme hepatic levels are appealing. The objective of this work was to develop a mechanistic-based computational framework to describe the effects of novel PBGD mRNA therapy on the accumulation of neurotoxic haem precursors in small and large animal models. Read More

J Pediatr Adolesc Gynecol 2020 Feb 28. Epub 2020 Feb 28.

Department of Endocrinology, Dr Ram Manohar Lohia Hospital, New-Delhi, India.

Background: Catamenial precipitation of attacks of acute intermittent porphyria (AIP) is commonly treated with gonadotropin-releasing hormone analogues (GnRHas). However, this leads to various adverse effects that might necessitate "add-back" therapy with estrogen. The literature on the efficacy and safety of such therapy is scarce. Read More

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

Mol Genet Metab 2020 May 10;130(1):87-99. Epub 2020 Feb 10.

Helsinki University Hospital, Department of Medicine, Finland. Electronic address:

Objective: Penetrance, predictive value and female patients' perspectives on genetic testing were evaluated among Finnish patients with acute porphyria. We conducted a retrospective study to evaluate prognosis among at-risk female family members depending on the primary method of diagnosis.

Methods: The penetrance was calculated among 23 genetically heterogeneous families selected from the Finnish porphyria registry (n = 515, AIP 333; VP 182). Read More

J Med Econ 2020 Feb 13:1-9. Epub 2020 Feb 13.

Recordati Rare Diseases Inc., Lebanon, NJ, USA.

Patients with acute intermittent porphyria (AIP) may suffer from acute non-specific attacks that often result in hospitalizations or emergency room (ER) visits. Prior to the recent approval of givosiran (November 2019), hemin was the only FDA-approved therapy for AIP attacks in the US. Our aim was to estimate the annual healthcare utilization and expenditures for AIP patients treated with hemin using real-world data. Read More

Clin Pharmacol Ther 2020 Jan 29. Epub 2020 Jan 29.

Alnylam Pharmaceuticals, Cambridge, MA, USA.

Givosiran is a small interfering ribonucleic acid agent that was recently approved in the United States for the treatment of acute hepatic porphyria (AHP). This phase I study evaluated the safety, pharmacokinetic, and pharmacodynamic profile of subcutaneously (SC) administered givosiran in patients with acute intermittent porphyria, the most common AHP type. Givosiran was rapidly absorbed from the SC injection site with peak plasma concentrations achieved within 0. Read More

BMJ Case Rep 2020 Jan 8;13(1). Epub 2020 Jan 8.

Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan.

Here, we report a case of a 15-year-old girl who presented to the emergency department with symptoms of abdominal pain, nausea, vomiting and seizures. She was diagnosed with acute intermittent porphyria. Treatment was started by removing all porphogenic drugs, providing high glucose intake (oral and intravenous), which initially resulted in good clinical outcomes. Read More

Transplant Proc 2020 Jan - Feb;52(1):423-424. Epub 2020 Jan 3.

Antimicrobial Resistance Research Center, Mashhad University of Medical Sciences, Mashhad, Iran; Department of Microbiology and Virology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. Electronic address:

Ther Clin Risk Manag 2019 16;15:1443-1451. Epub 2019 Dec 16.

Department of Medicine, Division of Gastroenterology, Duke University School of Medicine, Durham, NC, USA.

Acute intermittent porphyria (AIP) is an autosomal dominant metabolic disorder characterized by a deficiency in heme biosynthesis. Heme biosynthesis occurs throughout the body, but it is most prominent in the erythroblastic system and liver. AIP is a hepatic porphyria whereby the liver is the source of toxic heme metabolites. Read More

Noro Psikiyatr Ars 2019 Dec 15;56(4):311-312. Epub 2019 Oct 15.

Department of Neurology, Bakırköy Research and Training Hospital for Neurologic and Psychiatric Diseases, İstanbul, Turkey.

Patients with acute intermittent porphyria attacks present with severe abdominal pain, neuropathy and psychiatric disturbances. Porphyric neuropathy mostly causes confusion in clinical practice, and patients with porphyria are rarely correctly diagnosed early in the course of the illness. We report a patient with acute intermittent porphyria mimicking Guillain-Barré syndrome with acute onset weakness that rapidly progressed to severe quadriplegia. Read More

Malays J Pathol 2019 Dec;41(3):369-372

University Malaya, Faculty of Medicine, Department of Pathology, Kuala Lumpur, Malaysia.

Introduction: Hyponatraemia is one of the most frequent laboratory findings in hospitalised patients. We present an unusual case of hyponatraemia in a 23-year-old female secondary to acute intermittent porphyria (AIP), a rare inborn error of metabolism.

Case Report: The patient presented with upper respiratory tract infection, fever, seizures and abdominal pain. Read More

Rheumatol Int 2020 May 21;40(5):777-783. Epub 2019 Dec 21.

Department of Medicine, Universitat Autonòma, Catalonia, Barcelona, Spain.

Porphyrias, particularly acute intermittent porphyria (AIP), are rare disorders which could be associated with systemic lupus erythematosus (SLE). Although the association with AIP has been known since 1952, only 11 cases have been published to date. It is widely known that precipitating causes such as infections, hormonal changes, sunlight exposure, stress and drugs could provoke an AIP crisis. Read More

J Coll Physicians Surg Pak 2019 Dec;29(12):1236-1237

Department of Paediatrics, Torbay Hospital, Torquay, UK.

J Gastrointestin Liver Dis 2019 Dec 9;28(4):509-512. Epub 2019 Dec 9.

Regional Institute of Gastroenterology and Hepatology, Cluj-Napoca, Romania.

The association of Crohn's disease (CD) with acute intermittent porphyria (AIP), both without a family or personal pathological history, is a very rare clinical possibility. We present the case of a 23-year-old male diagnosed on the same admission with ileal CD and with an AIP crisis. The diagnosis was challenging as the symptoms overlapped. Read More

Mol Ther 2020 02 4;28(2):677-689. Epub 2019 Dec 4.

Department of Biomedicine, University of Bergen, 5020 Bergen, Norway. Electronic address:

Mutations in hydroxymethylbilane synthase (HMBS) cause acute intermittent porphyria (AIP), an autosomal dominant disease where typically only one HMBS allele is mutated. In AIP, the accumulation of porphyrin precursors triggers life-threatening neurovisceral attacks and at long-term, entails an increased risk of hepatocellular carcinoma, kidney failure, and hypertension. Today, the only cure is liver transplantation, and a need for effective mechanism-based therapies, such as pharmacological chaperones, is prevailing. Read More

Nat Biotechnol 2019 12;37(12):1390-1391

, Tequesta, FL, USA.

Mol Diagn Ther 2020 02;24(1):61-68

Technology for Gene Therapy Laboratory, Central Institute of Sciences, University of Brasília/FAV, Brasília, DF, Brazil.

In November 2019 givosiran became the second small interfering RNA (siRNA)-based drug to receive US Food and Drug Administration (FDA) approval, it has been developed for the treatment of acute intermittent porphyria (AIP), a disorder characterized by life-threatening acute neurovisceral attacks. The porphyrias are a group of disorders in which enzymatic deficiencies in heme production lead to toxic accumulation of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG), which are involved in the neurovisceral attacks. Givosiran acts as a conventional siRNA to trigger RNA interference (RNAi)-mediated gene silencing on delta-ALA synthase 1 (ALAS1), thus returning ALA and PBG metabolites to the physiological level to attenuate further neurotoxicity. 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

QJM 2020 Mar;113(3):207-208

From the Department of Internal Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Genet Med 2020 Mar 6;22(3):590-597. Epub 2019 Nov 6.

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

Purpose: Acute intermittent porphyria (AIP) is a rare inborn error of heme biosynthesis characterized by life-threatening acute attacks. Few studies have assessed quality of life (QoL) in AIP and those that have had small sample sizes and used tools that may not have captured important domains.

Methods: Baseline data from the Porphyrias Consortium's Longitudinal Study were obtained for 259 patients, including detailed disease and medical history data, and the following Patient-Reported Outcomes Measurement Information System (PROMIS) scales: anxiety, depression, pain interference, fatigue, sleep disturbance, physical function, and satisfaction with social roles. Read More

J Pediatr Neurosci 2019 Jul-Sep;14(3):137-139. Epub 2019 Sep 27.

Director neurosciences, S S Hospital, Agra, Uttar Pradesh, India.

Acute intermittent porphyria (AIP) is rare and the diagnosis is often delayed. It usually presents with abdominal symptoms, behavioural changes, seizures, tachycardia, and hypertension. MRI findings are usually normal or few contrast enhancing lesions may be present. Read More

Front Pharmacol 2019 13;10:1018. Epub 2019 Sep 13.

Center for Bioinformatics and Computational Biology, and the Institute of Biomedical Sciences, School of Life Sciences, East China Normal University, Shanghai, China.

The rare autosomal dominant disorder acute intermittent porphyria (AIP) is caused by the deficient activity of hydroxymethylbilane synthase (HMBS). The symptoms of AIP are acute neurovisceral attacks which are induced by the dysfunction of heme biosynthesis. To better interpret the underlying mechanism of clinical phenotypes, we collected 117 gene mutations from reported individuals with AIP and evaluated the mutations' impacts on the corresponding protein structure and function. Read More

BMJ Case Rep 2019 Sep 30;12(9). Epub 2019 Sep 30.

Department of Internal Medicine, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal.

Acute intermittent porphyria (AIP) is a rare condition, a metabolic disorder of the haem biosynthesis. An acute crisis of AIP can present as a combination of symptoms, such as abdominal pain, autonomic dysfunction, hyponatremia, muscle weakness and neurological symptoms in the absence of others obvious causes. We report the case of a 53-year-old woman, who was previously diagnosed with AIP 5 weeks after therapeutic suspension has developed an acute disease exacerbation. Read More

Am J Case Rep 2019 Sep 18;20:1378-1381. Epub 2019 Sep 18.

Department of Medicine, David Geffen School of Medicine at University of California Los Angeles (UCLA), Los Angeles, CA, USA.

BACKGROUND Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder that is part of a group of acute porphyria disorders usually found in females of reproductive age. Although clinically there is low penetrance, with 90% of genetically diagnosed individuals never experiencing an acute flair, consequences of acute flairs may lead to devastating results. Debilitating paresis, seizures, respiratory failure, and even death may result from AIP. Read More

J Child Neurol 2020 Jan 10;35(1):17-24. Epub 2019 Sep 10.

Department of Neurology, Boston Children's Hospital, Boston, MA, USA.

Background: The neuromuscular disorders encountered in the pediatric intensive care unit (PICU) encompass a broad spectrum of pathologies. These include acute disorders (eg, Guillain-Barre syndrome), acute-on-chronic disorders (eg, myasthenia gravis), progressive disorders (eg, muscular dystrophy), and disorders that develop in the PICU (eg, critical illness myopathy/polyneuropathy). Familiarity with the presenting features of these disorders is of paramount importance in facilitating timely diagnosis. 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

Mayo Clin Proc 2019 07;94(7):1334-1338

Advisor to residents and Consultant in Hospital Internal Medicine, Mayo Clinic, Jacksonville, FL.

BMC Health Serv Res 2019 Jul 3;19(1):444. Epub 2019 Jul 3.

Norwegian Porphyria Centre (NAPOS), Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Post Office Box 1400, N-5021, Bergen, Norway.

Background: Acute intermittent porphyria (AIP) is an inherited metabolic disease with low clinical penetrance caused by mutations in the hydroxymethylbilane (HMBS) gene. Although most patients experience little or no symptoms, serious attacks may include excruciating pain, severe electrolyte disturbances, paresis, and respiratory failure. Several drugs and lifestyle factors are potential attack inducers and avoiding known triggers is important to avoid symptomatic disease in both patients and genetically predisposed carriers. Read More

Zhonghua Nei Ke Za Zhi 2019 Jul;58(7):520-524

Department of Gastroenterology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.

To analyse the clinical characteristics of patients with acute intermittent porphyria (AIP) in order to improve the understanding and treatment. Patients diagnosed as AIP and admitted to the First Affiliated Hospital of Zhengzhou University were retrospectively enrolled from January 2008 to July 2018. Data of clinical manifestations, causes, laboratory data, treatment and clinical outcome were recorded. Read More

Case Rep Neurol 2019 Jan-Apr;11(1):32-36. Epub 2019 Feb 8.

Division of Neurology, Department of Medicine, University of Toronto and University Health Network, Toronto, Ontario, Canada.

The porphyrias are metabolic disorders due to a defect in the heme biosynthetic pathway. Patients have diverse clinical presentations with neuropathy being frequent in acute intermittent porphyria (AIP). Associated symptoms are abdominal pain and seizures. Read More

Hum Gene Ther 2019 10 1;30(10):1180-1189. Epub 2019 Jul 1.

Rare Diseases, Moderna, Inc., Cambridge, Massachusetts.

Exogenous delivery of messenger RNA (mRNA) is emerging as a new class of medicine with broad applicability including the potential to treat rare monogenic disorders. Recent advances in mRNA technology, including modifications to the mRNA itself along with improvements to the delivery vehicle, have transformed the utility of mRNA as a potential therapy to restore or replace different types of therapeutic proteins. Preclinical proof-of-concept has been demonstrated for mRNA therapy for three different rare metabolic disorders: methylmalonic acidemia, acute intermittent porphyria, and Fabry disease. 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

Rev Neurol (Paris) 2020 Jan - Feb;176(1-2):118-120. Epub 2019 May 29.

Univ. Bordeaux, Inserm, BMGIC, U1035, CHU de Bordeaux, 33076, Bordeaux, France. Electronic address:

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

Gastroenterol Clin North Am 2019 06 1;48(2):183-198. Epub 2019 Apr 1.

Quest Diagnostics, 33608 Ortega Highway, San Juan Capistrano, CA 92690, USA.

Inborn errors of metabolism (IEMs) are usually recognized by characteristic neurologic and metabolic manifestations and sometimes by dysmorphism. However, IEMs can present with a wide variety of gastrointestinal manifestations, whether as the primary or a minor clinical symptom. Regardless, gastrointestinal and hepatic manifestations of IEMs are important clinical features that can help identify an underlying defect; these disorders should be taken into consideration as part of a patient's clinical assessment. Read More

Clin Genet 2019 07 14;96(1):91-97. Epub 2019 May 14.

Laboratory of Gene Engineering, National Medical Research Center for Hematology of Ministry of Health, Moscow, Russia.

Acute intermittent porphyria (AIP) is the most common and severe form of porphyrias. This is a dominant inherited disorder with low penetrance, caused by mutations in gene coding hydroxymethylbilane synthase (HMBS). We present the results of our long-term genetic study of AIP patients and their relatives (N = 153 and 302, respectively). Read More

Hepatology 2019 Sep 23;70(3):1061-1063. Epub 2019 May 23.

Gene Therapy and Regulation of Gene Expression Program, Center for Applied Medical Research, CIMA, University of Navarra, IdisNA, Pamplona, Spain.

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