2,104 results match your criteria Porphyria Acute Intermittent


Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria.

Mol Genet Metab 2019 Jan 7. Epub 2019 Jan 7.

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

Background And Aims: Acute intermittent porphyria (AIP) results from a partial deficiency of porphobilinogen deaminase (PBGD). Symptomatic AIP patients, most of whom are women, experience acute attacks characterized by severe abdominal pain and abrupt increases in blood pressure. Here, we characterized the reactivity of mesenteric arteries from male and female AIP mice with ~30% of normal PBGD activity and wild type C57BL/6 mice. Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.01.005DOI Listing
January 2019

Computational disease model of phenobarbital-induced acute attacks in an acute intermittent porphyria mouse model.

Mol Genet Metab 2018 Dec 21. Epub 2018 Dec 21.

Pharmacometrics & Systems Pharmacology Research Unit, Department of Pharmaceutical Technology and Chemistry, School of Pharmacy and Nutrition, University of Navarra, Pamplona, Spain; IdiSNA, Navarra Institute for Health Research, Pamplona, Spain.

Introduction: Acute intermittent porphyria (AIP) is characterized by hepatic over-production of the heme precursors when aminolevulinic acid (ALA)-synthase 1 is induced by endogenous or environmental factors. The aim of this study was to develop a semi-mechanistic computational model to characterize urine accumulation of heme precursors during acute attacks based on experimental pharmacodynamics data and support the development of new therapeutic strategies.

Methods: Male AIP mice received recurrent phenobarbital challenge starting on days 1, 9, 16 and 30. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183057
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http://dx.doi.org/10.1016/j.ymgme.2018.12.009DOI Listing
December 2018
1 Read

Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.

Hum Mol Genet 2019 Jan 7. Epub 2019 Jan 7.

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

Acute intermittent porphyria (AIP) is an inborn error of heme biosynthesis due to the deficiency of hydroxymethylbilane synthase (HMBS) activity. Human AIP heterozygotes have episodic acute neurovisceral attacks that typically start after puberty, whereas patients with homozygous dominant AIP (HD-AIP) have early-onset chronic neurological impairment, including ataxia and psychomotor retardation. To investigate the dramatically different manifestations, knock-in mice with human HD-AIP missense mutations c. Read More

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https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
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http://dx.doi.org/10.1093/hmg/ddz003DOI Listing
January 2019
1 Read

Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.

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

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http://dx.doi.org/10.1016/j.ymgme.2018.11.012DOI Listing
November 2018

Lifestyle factors including diet and biochemical biomarkers in acute intermittent porphyria: Results from a case-control study in northern Norway.

Mol Genet Metab 2018 Dec 10. Epub 2018 Dec 10.

Department of Laboratory Medicine, Nordland Hospital Trust, Bodø, Norway; Institute of Clinical Medicine, UiT The Arctic University of Norway, Tromsø, Norway.

Background: Lifestyle factors, including a low intake of carbohydrates, dieting, alcohol consumption, cigarette smoking and stress are some of the possible triggers of attacks in acute intermittent porphyria (AIP). The influence of lifestyle factors, including energy intake, diet and alcohol consumption on the biochemical disease activity in AIP and biochemical nutritional markers were examined.

Methods: A case-control study with 50 AIP cases and 50 controls matched for age, sex and place of residence was performed. Read More

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http://dx.doi.org/10.1016/j.ymgme.2018.12.006DOI Listing
December 2018

Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations.

Am J Med Genet B Neuropsychiatr Genet 2019 Jan 16;180(1):46-54. Epub 2018 Dec 16.

Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

Many genetic conditions can mimic mental health disorders, with psychiatric symptoms that are difficult to treat with standard psychotropic medications. This study tests the hypothesis that psychiatric populations are enriched for pathogenic variants associated with selected inborn errors of metabolism (IEMs). Using next-generation sequencing, 2046 psychiatric patients were screened for pathogenic variants in genes associated with four IEMs, Niemann-Pick disease type C (NPC), Wilson disease (WD), homocystinuria (HOM), and acute intermittent porphyria (AIP). Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.b.32702
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http://dx.doi.org/10.1002/ajmg.b.32702DOI Listing
January 2019
4 Reads

Systemic Administered mRNA as Therapy for Metabolic Diseases.

Trends Mol Med 2019 Jan 6;25(1):3-5. Epub 2018 Dec 6.

UMRs 1149, Centre de Recherche sur l'Inflammation, Institut National de la Santé et de la Recherche Médicale, Université Paris Diderot, 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, 75015 Paris, France. Electronic address:

The potential of mRNA to produce therapeutic and protective protein levels is a promising approach for the treatment of a large number of diseases. In a recent study published in Nature Medicine (Published online October 8, 2018. doi. Read More

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http://dx.doi.org/10.1016/j.molmed.2018.11.003DOI Listing
January 2019
1 Read

Does Schizoaffective Disorder explain the mental illnesses of Robert Schumann and Vincent Van Gogh?

Psychiatr Danub 2018 Nov;30(Suppl 7):559-562

Clare College Cambridge, University of Cambridge, Trinity Lane, Cambridge, CB2 1TL, UK,

The geniuses Robert Schumann and Vincent Van Gogh show striking similarities both in the longitudinal nature of the progression of their illnesses, and the symptoms they experienced. There have been physiological explanations posed for both men, including Meniere's disease, tertiary syphilis, acute intermittent porphyria, terpenoid and lead poisoning, intracranial masses, temporal lobe epilepsy and dementia caused by vascular hypertension. The evidence for these physiological explanations is assessed. Read More

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November 2018
3 Reads

Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword.

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

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183048
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http://dx.doi.org/10.1016/j.ymgme.2018.10.001DOI Listing
October 2018
7 Reads
2.625 Impact Factor

Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.

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

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183048
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http://dx.doi.org/10.1016/j.ymgme.2018.10.008DOI Listing
October 2018
14 Reads

[Porphyrias-what is verified?]

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

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http://link.springer.com/10.1007/s00108-018-0509-z
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http://dx.doi.org/10.1007/s00108-018-0509-zDOI Listing
December 2018
13 Reads

Systemic messenger RNA as an etiological treatment for acute intermittent porphyria.

Nat Med 2018 Dec 8;24(12):1899-1909. Epub 2018 Oct 8.

Instituto de Investigación Sanitaria de Navarra (IdiSNA), Pamplona, Spain.

Acute intermittent porphyria (AIP) results from haploinsufficiency of porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthesis pathway. Patients with AIP have neurovisceral attacks associated with increased hepatic heme demand. Phenobarbital-challenged mice with AIP recapitulate the biochemical and clinical characteristics of patients with AIP, including hepatic overproduction of the potentially neurotoxic porphyrin precursors. Read More

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http://www.nature.com/articles/s41591-018-0199-z
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http://dx.doi.org/10.1038/s41591-018-0199-zDOI Listing
December 2018
20 Reads

Acute Intermittent Porphyria: A Rare Cause of Acute Disseminated Encephalomyelitis.

Cureus 2018 Jul 17;10(7):e2989. Epub 2018 Jul 17.

Internal Medicine, Shifa College Of Medicine, Islamabad, PAK.

Acute disseminated encephalomyelitis (ADEM) is a demyelinating disease of the central nervous system (CNS) with no distinct etiology but implications include infections and commonly administered vaccinations. In this case report, we present the case of ADEM in a young female who was subsequently diagnosed with acute intermittent porphyria (AIP) that was the instigator of the initial CNS assault. Our case highlights the peculiar presentation of ADEM which can present as a diagnostic challenge and brings forth AIP as a new and previously unknown affiliate of this rare CNS disease. Read More

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http://dx.doi.org/10.7759/cureus.2989DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6141216PMC
July 2018
1 Read

Effect of 5-aminolevulinic acid on the expression of carcinogenesis-related proteins in cultured primary hepatocytes.

Mol Biol Rep 2018 Sep 14. Epub 2018 Sep 14.

Laboratory of Molecular Biology, Butantan Institute, Av. Vital Brasil, 1500, Butantã, São Paulo, SP, 05503-900, Brazil.

Acute intermittent porphyria (AIP) is a heme pathway disorder caused by a decrease in the activity and synthesis of porphobilinogen deaminase. Thus, the first heme precursor 5-aminolevulinic acid (ALA) accumulates in the liver. Reactive oxygen species (ROS) resulting from ALA oxidation may be correlated to a higher incidence of hepatocellular carcinoma (HCC) in AIP patients. Read More

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http://dx.doi.org/10.1007/s11033-018-4367-5DOI Listing
September 2018
3 Reads

A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report.

Medicine (Baltimore) 2018 Sep;97(37):e12295

Shanxi Medical University.

Rationale: Acute intermittent porphyria (AIP) is caused by hydroxymethylbilane synthase (HMBS) gene mutation.

Patient Concerns: A Chinese female patient with very typical AIP symptoms of severe abdominal pain, seizures, hypertension, and tachycardia, accompanied with hyponatremia, anemia, and hyperbilirubinemia.

Diagnoses: She was diagnosed as AIP based on positive result of urine porphobilinogen and her clinical syndrome. Read More

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http://dx.doi.org/10.1097/MD.0000000000012295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6156069PMC
September 2018
2 Reads

Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP).

Mol Genet Metab 2018 Nov 5;125(3):295-301. Epub 2018 Sep 5.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, U.O.C. Medicina Generale, Milano, Italy. Electronic address:

Genetic variants in promoters and alternative-splicing lesions require to be experimentally tested in order to validate them as causatives of a disease. The digital PCR (dPCR) approach, which is an alternative to the classical qPCR, is an innovative and a more sensitive method for the detection and quantification of nucleic acids. In the present study, we identified four HMBS gene mutations affecting the ubiquitous isoform of porphobilinogen deaminase (PBGD) and established a dPCR protocol which would be able to detect the different transcripts of this gene. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183043
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http://dx.doi.org/10.1016/j.ymgme.2018.09.002DOI Listing
November 2018
10 Reads

Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome: Two case reports and a literature review.

Medicine (Baltimore) 2018 Sep;97(36):e11665

Urology Department, Qilu Hospital of Shandong University, Qingdao, Shandong Province, China.

Introduction: Acute intermittent porphyria (AIP) is a rare and challenging hereditary neurovisceral disease with no specific symptoms. Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological syndrome with bilateral reversible posterior gyriform lesions that can be associated with many different conditions, including AIP. Usually, peripheral neuropathy is considered the most common neurological manifestation of AIP. Read More

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http://dx.doi.org/10.1097/MD.0000000000011665DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133578PMC
September 2018
10 Reads

Acute Intermittent Porphyria Presented with Acute Intestinal Pseudo-obstruction.

Indian J Endocrinol Metab 2018 Jul-Aug;22(4):573-574

Department of Medicine, Dr. S. N. Medical College, Jodhpur, Rajasthan, India.

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http://www.ijem.in/text.asp?2018/22/4/573/238124
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http://dx.doi.org/10.4103/ijem.IJEM_677_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6085950PMC
August 2018
14 Reads

Bioengineered PBGD variant improves the therapeutic index of gene therapy vectors for acute intermittent porphyria.

Hum Mol Genet 2018 Nov;27(21):3688-3696

Hepatology Program, CIMA-University of Navarra, Spain.

A first-in-human gene therapy trial using a recombinant adeno-associated viral (rAAV) vector for acute intermittent porphyria (AIP) reveals that higher doses would be required to reach therapeutic levels of the porphobilinogen deaminase (PBGD) transgene. We developed a hyperfunctional PBGD protein to improve the therapeutic index without increasing vector dose. A consensus protein sequence from 12 mammal species was compared to the human PBGD sequence, and eight amino acids were selected. Read More

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http://dx.doi.org/10.1093/hmg/ddy283DOI Listing
November 2018
2 Reads

Many pitfalls in diagnosis of acute intermittent porphyria: a case report.

BMC Res Notes 2018 Aug 2;11(1):552. Epub 2018 Aug 2.

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

Background: Acute intermittent porphyria is a rare autosomal dominant disorder caused by a deficiency of the enzyme, hydroxymethylbilane synthase. Recognition of acute neurovisceral attacks can be difficult due to the nonspecific nature of symptoms.

Case Presentation: We report a case of 33-year-old male patient who presented with recurrent episodes of severe abdominal pain, nausea, vomiting, constipation and numbness of bilateral lower limb extremities. Read More

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http://dx.doi.org/10.1186/s13104-018-3615-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071335PMC
August 2018
2 Reads

Correction to: Medical and financial burden of acute intermittent porphyria.

J Inherit Metab Dis 2018 Nov;41(6):1297-1298

Porphyria Center, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus Medical Center, PO Box 2040, 3000, CA, Rotterdam, the Netherlands.

Due to a typesetting error the wrong figure 2 was used. Read More

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http://dx.doi.org/10.1007/s10545-018-0216-xDOI Listing
November 2018
2 Reads
3.370 Impact Factor

Patient Perspective on Acute Intermittent Porphyria with Frequent Attacks: A Disease with Intermittent and Chronic Manifestations.

Patient 2018 10;11(5):527-537

Modus Outcomes, Newton, MA, USA.

Objective: Acute intermittent porphyria is a rare metabolic disorder that affects heme synthesis. Patients with acute intermittent porphyria may experience acute debilitating neurovisceral attacks that require frequent hospitalizations and negatively impact quality of life. Although clinical aspects of acute intermittent porphyria attacks have been documented, the experience of patients is not well known, particularly for those more severely affected patients who experience frequent attacks. Read More

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http://dx.doi.org/10.1007/s40271-018-0319-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132435PMC
October 2018
16 Reads

A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy.

J Family Med Prim Care 2018 Jan-Feb;7(1):261-263

Department of Pediatrics, Sri Aurobindo Medical College and Postgraduate Institute, Indore, Madhya Pradesh, India.

Acute intermittent porphyria (AIP) and ichthyosis vulgaris both are autosomal dominant disorders with incomplete penetrance caused by the deficiency of porphobilinogen deaminase enzyme and filaggrin protein, respectively. We report a rare case of a 9-year-old boy having two genetic diseases with an unclear association. An acute attack of AIP is characterized by gastrointestinal symptoms and neuropsychiatric manifestations. Read More

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http://dx.doi.org/10.4103/jfmpc.jfmpc_141_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5958583PMC

Structural basis of pyrrole polymerization in human porphobilinogen deaminase.

Biochim Biophys Acta Gen Subj 2018 09 15;1862(9):1948-1955. Epub 2018 Jun 15.

Protein Stability and Inherited Disease Laboratory, CIC bioGUNE, Derio, Bizkaia 48160, Spain. Electronic address:

Human porphobilinogen deaminase (PBGD), the third enzyme in the heme pathway, catalyzes four times a single reaction to convert porphobilinogen into hydroxymethylbilane. Remarkably, PBGD employs a single active site during the process, with a distinct yet chemically equivalent bond formed each time. The four intermediate complexes of the enzyme have been biochemically validated and they can be isolated but they have never been structurally characterized other than the apo- and holo-enzyme bound to the cofactor. Read More

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http://dx.doi.org/10.1016/j.bbagen.2018.06.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192514PMC
September 2018
6 Reads

Acute Intermittent Porphyria in the North of China: The Acute Attack Effect on Quality of Life and Psychological Condition.

Biomed Res Int 2018 15;2018:3216802. Epub 2018 May 15.

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

Background: Acute intermittent porphyria (AIP) is an autosomal recessive disorder with intermittent attacks. Patients with AIP are susceptible to impaired quality of life and psychological distress.

Objectives: To document the clinical features of AIP and its impact on SF-36 and IES scores of AIP patients in China and to explore the variables associated with SF-36 and IES scores. Read More

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https://www.hindawi.com/journals/bmri/2018/3216802/
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http://dx.doi.org/10.1155/2018/3216802DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976947PMC
October 2018
21 Reads

Whole Exome Sequencing Identified a Novel Heterozygous Mutation in Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia.

Front Genet 2018 20;9:129. Epub 2018 Apr 20.

Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, China.

Acute intermittent porphyria (AIP) is a rare hereditary metabolic disease with an autosomal dominant mode of inheritance. Germline mutations of gene causes AIP. Mutation of gene results into the partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase. Read More

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http://dx.doi.org/10.3389/fgene.2018.00129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5920022PMC
April 2018
3 Reads

Medical and financial burden of acute intermittent porphyria.

J Inherit Metab Dis 2018 Sep 19;41(5):809-817. Epub 2018 Apr 19.

Porphyria Center, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus Medical Center, PO Box 2040, 3000 CA, Rotterdam, the Netherlands.

Introduction: A small proportion of patients with acute intermittent porphyria (AIP) suffer from recurrent porphyric attacks, with a severely diminished quality of life. In this retrospective case-control study, the burden of disease is quantified and compared among three AIP patient subgroups: cases with recurrent attacks, cases with one or occasional attacks and asymptomatic carriers.

Methods: Data from patient records and questionnaires were collected in patients between 1960 and 2016 at the Erasmus Medical Center, Rotterdam, the Netherlands. Read More

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http://dx.doi.org/10.1007/s10545-018-0178-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133185PMC
September 2018
3 Reads
3.370 Impact Factor

Porphyria and kidney diseases.

Clin Kidney J 2018 Apr 10;11(2):191-197. Epub 2018 Jan 10.

Centre Francais des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes, France.

The kidneys, after the bone marrow and liver, are third in terms of the amounts of haem synthesized daily. Haem is incorporated into haemoproteins that are critical to renal physiology. In turn, disturbances in haem metabolism interfere with renal physiology and are tightly interrelated with kidney diseases. Read More

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http://dx.doi.org/10.1093/ckj/sfx146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5888040PMC
April 2018
6 Reads

Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP.

Proc Natl Acad Sci U S A 2018 04 9;115(17):E4071-E4080. Epub 2018 Apr 9.

Life Sciences Division, TCS Innovation Labs-Hyderabad, Tata Consultancy Services Limited, Hyderabad 500081, India;

Hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway, catalyzes the head-to-tail condensation of four molecules of porphobilinogen (PBG) to form the linear tetrapyrrole 1-hydroxymethylbilane (HMB). Mutations in human () cause acute intermittent porphyria (AIP), an autosomal-dominant disorder characterized by life-threatening neurovisceral attacks. Although the 3D structure of hHMBS has been reported, the mechanism of the stepwise polymerization of four PBG molecules to form HMB remains unknown. Read More

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http://dx.doi.org/10.1073/pnas.1719267115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924904PMC
April 2018
8 Reads

Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.

J Inherit Metab Dis 2018 Mar 28. Epub 2018 Mar 28.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue Room 14-34, New York, NY, 10029, USA.

Acute intermittent porphyria (AIP), an autosomal dominant disorder due to the half-normal activity of hydroxymethylbilane synthase (HMBS), is characterized by acute neurovisceral attacks that are precipitated by factors that induce heme biosynthesis. Molecular diagnosis is the most sensitive and specific diagnostic test for AIP, and importantly, it permits the identification of asymptomatic family members for genetic counseling and avoidance of precipitating factors. Here, we report the identification of 40 novel HMBS mutations, including 11 missense, four nonsense, 16 small insertions or deletions, eight consensus splice site mutations, and a complex insertion-deletion mutation in unrelated individuals with AIP. Read More

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http://dx.doi.org/10.1007/s10545-018-0163-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6162174PMC
March 2018
3 Reads

Porphyria: What Is It and Who Should Be Evaluated?

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

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http://dx.doi.org/10.5041/RMMJ.10333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916231PMC
April 2018
5 Reads

Porphyria: often discussed but too often missed.

Pract Neurol 2018 Oct 14;18(5):352-358. Epub 2018 Mar 14.

Department of Neurology, Sheffield Teaching Hospitals (STH), Sheffield, UK.

The diagnosis of acute intermittent porphyria (AIP) is often overlooked. We describe a patient with this condition who had all the 'bells and whistles', in whom the diagnosis was only made after considerable delay. Far from an esoteric condition haunting examination candidates, AIP is an important cause of a broad spectrum of neurological symptoms. Read More

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http://dx.doi.org/10.1136/practneurol-2017-001878DOI Listing
October 2018
4 Reads

Acute Primary Adrenal Insufficiency after Hip Replacement in a Patient with Acute Intermittent Porphyria.

Case Rep Endocrinol 2018 4;2018:2353172. Epub 2018 Jan 4.

Division of Endocrinology, Diabetology and Metabolism, Santa Croce e Carle Hospital, Via M. Coppino 26, 12100 Cuneo, Italy.

Adrenal insufficiency is a potentially life-threatening condition when it occurs acutely, as in adrenal hemorrhage. Generally it is not reversible and requires chronic replacement therapy. Acute intermittent porphyria (AIP) is a rare genetic disease characterized by alterations in heme biosynthesis that result in accumulation of precursors in tissues. Read More

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http://dx.doi.org/10.1155/2018/2353172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817294PMC
January 2018
15 Reads

Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver.

J Intern Med 2018 Jul 26;284(1):78-91. Epub 2018 Mar 26.

Centre Français des Porphyries, Hôpital Louis Mourier, Assistance publique-Hôpitaux de Paris (AP-HP), Colombes, France.

Background: Acute intermittent porphyria (AIP) is an inherited disorder of haem metabolism characterized by life-threatening acute neurovisceral attacks due to the induction of hepatic δ-aminolevulinic acid synthase 1 (ALAS1) associated with hydroxymethylbilane synthase (HMBS) deficiency. So far, the treatment of choice is hemin which represses ALAS1. The main issue in the medical care of AIP patients is the occurrence of debilitating recurrent attacks. Read More

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http://dx.doi.org/10.1111/joim.12750DOI Listing
July 2018
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Effects of volatile anaesthetics on heme metabolism in a murine genetic model of Acute Intermittent Porphyria. A comparative study with other porphyrinogenic drugs.

Biochim Biophys Acta Gen Subj 2018 06 22;1862(6):1296-1305. Epub 2018 Feb 22.

Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), CONICET, Hospital de Clínicas José de San Martín, Universidad de Buenos Aires, Argentina; Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Argentina. Electronic address:

Background: Acute Intermittent Porphyria (AIP) is an inherited disease produced by a deficiency of Porphobilinogen deaminase (PBG-D). The aim of this work was to evaluate the effects of Isoflurane and Sevoflurane on heme metabolism in a mouse genetic model of AIP to further support our previous proposal for avoiding their use in porphyric patients. A comparative study was performed administering the porphyrinogenic drugs allylisopropylacetamide (AIA), barbital and ethanol, and also between sex and mutation using AIP (PBG-D activity 70% reduced) and T1 (PBG-D activity 50% diminished) mice. Read More

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http://dx.doi.org/10.1016/j.bbagen.2018.02.013DOI Listing
June 2018
5 Reads

Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm.

Metabolomics 2018 4;14(1):10. Epub 2017 Dec 4.

1INSERM U1147, Centre Universitaire des Saints Pères, Paris, France.

Introduction: Metabolomic profiling combines Nuclear Magnetic Resonance spectroscopy with supervised statistical analysis that might allow to better understanding the mechanisms of a disease.

Objectives: In this study, the urinary metabolic profiling of individuals with porphyrias was performed to predict different types of disease, and to propose new pathophysiological hypotheses.

Methods: Urine H-NMR spectra of 73 patients with asymptomatic acute intermittent porphyria (aAIP) and familial or sporadic porphyria cutanea tarda (f/sPCT) were compared using a supervised rule-mining algorithm. Read More

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http://link.springer.com/10.1007/s11306-017-1305-9
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http://dx.doi.org/10.1007/s11306-017-1305-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5794841PMC
December 2017
6 Reads

Psychiatric Aspects of Acute Porphyria: a Comprehensive Review.

Curr Psychiatry Rep 2018 02 2;20(1). Epub 2018 Feb 2.

FundaMental Research Group, Psychiatry and Mental Health Department, Hospital Universitario Fundación Santa Fe de Bogotá, Bogotá, Colombia.

Purpose Of Review: The aim of this paper is to review psychiatric manifestations, comorbidities, and psychopharmacological management in individuals with acute porphyria (AP).

Recent Findings: Recent literature begins to clarify associations between AP, schizophrenia, bipolar disorder, and other psychopathology. Broad psychiatric symptoms have been associated to acute porphyria (AP) and correspond to a spectrum of heterogeneous manifestations such as anxiety, affective alterations, behavioral changes, personality, and psychotic symptoms. Read More

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http://dx.doi.org/10.1007/s11920-018-0867-1DOI Listing
February 2018
4 Reads

Acute intermittent porphyria: general aspects with focus on pain.

Curr Med Res Opin 2018 Jul 26;34(7):1309-1315. Epub 2018 Feb 26.

b Fundación Santafe de Bogota , Bogota , Colombia.

Despite medical advances, the diagnosis and management of acute intermittent porphyria continues to be challenging. Acute pain is one of the most important clinical manifestations in acute intermittent porphyria, but management and pain assessment have been poorly studied in these patients. The lack of information and evidence based recommendations regarding these topics in the medical literature is certainly surprising. Read More

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http://dx.doi.org/10.1080/03007995.2018.1435521DOI Listing
July 2018
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[CME: Acute Intermittent Porphyria: When to Think of It? What Must be Checked? How to Treat?]

Praxis (Bern 1994) 2018 Jan;107(3):117-124

3 Porphyrie-Sprechstunde, Ambulantes Perioperatives Zentrum (APZ), Stadtspital Triemli Zürich.

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http://dx.doi.org/10.1024/1661-8157/a002887DOI Listing
January 2018

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.

Hum Mol Genet 2018 04;27(7):1164-1173

UMRs 1149, Centre de Recherche sur l'Inflammation, Institut National de la Santé et de la Recherche Médicale, F-75018 Paris, France.

Acute intermittent porphyria (AIP) is a disease affecting the heme biosynthesis pathway caused by mutations of the hydroxymethylbilane synthase (HMBS) gene. AIP is thought to display autosomal dominant inheritance with incomplete penetrance. We evaluated the prevalence, penetrance and heritability of AIP, in families with the disease from the French reference center for porphyria (CFP) (602 overt patients; 1968 relatives) and the general population, using Exome Variant Server (EVS; 12 990 alleles) data. Read More

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http://dx.doi.org/10.1093/hmg/ddy030DOI Listing
April 2018
31 Reads

Diagnosis and Treatment of Acute Intermittent Porphyria.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2017 Dec;39(6):836-840

Department of Endocrinology,the First Affiliated Hospital of Chongqing Medical University,Chongqing 400016,China.

Acute intermittent porphyria (AIP) is a metabolic disease caused by hepatic deficiency of hydroxymethylbilane synthase. Its clinical manifestations include acute abdominal pain,neuropsychological abnormalities,and red urine. Due to its low incidence and varied clinical symptoms,the rates of misdiagnosis and mistreatment were particularly high. Read More

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http://dx.doi.org/10.3881/j.issn.1000-503X.2017.06.017DOI Listing
December 2017
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Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria.

Clin Chim Acta 2018 Apr 6;479:1-6. Epub 2018 Jan 6.

Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University College of Medicine, Taoyuan, Taiwan. Electronic address:

Background: Acute intermittent porphyria (AIP) is caused by diminished activity of porphobilinogen deaminase (PBGD). The purpose of this study was to validate and compare two assays for PBGD activity. The clinical sensitivity of the PBGD activity assays in AIP diagnosis was also evaluated. Read More

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http://dx.doi.org/10.1016/j.cca.2018.01.009DOI Listing
April 2018
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Perioperative Challenges in Liver Transplantation for a Patient With Acute Intermittent Porphyria.

J Cardiothorac Vasc Anesth 2018 Dec 28;32(6):2716-2720. Epub 2017 Nov 28.

Duke University School of Medicine, Durham, NC.

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http://dx.doi.org/10.1053/j.jvca.2017.11.045DOI Listing
December 2018
4 Reads

Effects of hemin and hemodialysis in a patient with acute intermittent porphyria and renal failure.

Blood Adv 2017 Jun 5;1(14):915-917. Epub 2017 Jun 5.

Division of Hematology/Oncology, Department of Medicine, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY.

Hemin and hemodialysis had an additive effect in decreasing ALA and PBG in our patient with acute intermittent porphyria and renal failure.The time course of ALA and PBG reaccumulation after hemodialysis is not known. Read More

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http://dx.doi.org/10.1182/bloodadvances.2017005660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5737596PMC
June 2017
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Treatment of acute intermittent porphyria during pregnancy and posterior reversible encephalopathy syndrome after delivery: A case report.

Exp Ther Med 2017 Dec 27;14(6):5554-5556. Epub 2017 Sep 27.

Department of Gastroenterology and Hepatology, Hebei General Hospital, Shijiazhuang, Hebei 050051, P.R. China.

Acute intermittent porphyria (AIP) is a rare inherited disorder of heme metabolism. It has the ability to trigger posterior reversible encephalopathy syndrome (PRES), a rare acute neurologic condition that is characterized by acute neurological symptoms. Pregnancy may induce AIP attacks. Read More

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http://www.spandidos-publications.com/10.3892/etm.2017.5212
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http://dx.doi.org/10.3892/etm.2017.5212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740810PMC
December 2017
12 Reads

An Unusual Case of Abdominal Pain and Hyponatremia in a 16-Year-Old Girl With Disordered Eating.

Pediatrics 2018 01 5;141(1). Epub 2017 Dec 5.

Departments of Pediatrics and

A previously healthy 16-year-old girl presented to the emergency department with 1 week of severe, diffuse abdominal pain and constipation, as well as several episodes of nonbloody, nonbilious emesis. Her symptoms began several days after she decreased her caloric intake in an attempt to lose weight. She had been drinking 48 to 60 oz of water per day for several days before admission in an attempt to ameliorate her constipation. Read More

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http://dx.doi.org/10.1542/peds.2017-0291DOI Listing
January 2018
6 Reads

Antiepileptic Drugs and Liver Disease.

Pediatr Neurol 2017 Dec 22;77:23-36. Epub 2017 Sep 22.

Division of Pediatric Neurology, Department of Pediatrics, Nationwide Children's Hospital, Columbus, Ohio.

Acute, symptomatic seizures or epilepsy may complicate the course of hepatic disease. Choosing the most appropriate antiepileptic drug in this setting represents a difficult challenge, as most medications are metabolized by the liver. This article focuses on the acute and chronic treatment of seizures in patients with advanced liver disease and reviews the hepatotoxic potential of specific antiepileptic drugs. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.09.013DOI Listing
December 2017
9 Reads

Effect of Menstrual Cycle on Acute Intermittent Porphyria.

Child Neurol Open 2017 Jan-Dec;4:2329048X17736170. Epub 2017 Oct 18.

Department of Clinical Medicine-Hematology, Universidade Federal de Pernambuco, Recife, Brazil.

A 16-year-old female who was attended as an outpatient reported localized, acute abdominal pain with vomiting, symmetrical motor weakness, and burning sensation in both arms and legs. Her medical history showed irrational behavior, repeated admissions at the emergency units of many other reference hospitals, where she had been investigated for celiac disease and treated with analgesics for pain events. Her clinical condition remained unchanged despite the use of many oral analgesics. Read More

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http://dx.doi.org/10.1177/2329048X17736170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5652657PMC
October 2017
2 Reads

An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria.

Hum Gene Ther 2018 Apr 2;29(4):480-491. Epub 2018 Jan 2.

1 Hepatology Program, Centre for Applied Medical Research, University of Navarra, Pamplona, Spain .

Porphobilinogen deaminase (PBGD) gene therapy represents a promising therapeutic option for acute intermittent porphyria (AIP) patients suffering recurrent acute attacks. A first-in-human Phase I clinical trial confirmed the safety and tolerability of adeno-associated virus (AAV)-AAT-PBGD gene therapy, but higher doses and/or more efficient vectors are needed to achieve therapeutic expression of the transgene. This study assayed the insertion into the promoter of a short enhancer element able to induce transgene expression during exposure to endogenous and exogenous stimuli related to the pathology of the disease. Read More

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http://dx.doi.org/10.1089/hum.2017.056DOI Listing
April 2018
14 Reads

Acute intermittent porphyria after right hemi-colectomy.

Int J Surg Case Rep 2017 28;40:116-119. Epub 2017 Sep 28.

Department of Surgery, King Fahd Hospital of the University, College of Medicine, University of Dammam, Dammam, Saudi Arabia. Electronic address:

Introduction: Acute intermittent porphyria is a rare autosomal dominant metabolic disease. It is caused by a genetic mutation that results in deficiency of porphobilinogen deaminase enzyme, the third enzyme in heme biosynthesis. Acute intermittent porphyria precipitated by surgery is very rare. Read More

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http://dx.doi.org/10.1016/j.ijscr.2017.09.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5633257PMC
September 2017
6 Reads