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30 results on '"hepatic porphyrias"'

1. Rare mutation of the PPOX gene in a patient with Porphyria Variegate: a case report in Peru.

Author

Kamimoto-Rodriguez, Augusto, Caira-Chuquineyra, Brenda, and Fernandez-Guzman, Daniel

Subjects
*VARIEGATE porphyria, *PROTOPORPHYRINOGEN oxidase, *GENETIC mutation
Abstract

Introduction: Variegate porphyria (VP) is a rare disease, resulting from mutation of the protoporphyrinogen oxidase (PPOX) enzyme gene, and it is characterized by cutaneous manifestations and acute neuro-visceral symptoms. Case report: We describe the case of a 21- year-old woman from Peruvian highlands. The patient came to the emergency department for abdominal pain, quadriparesis and reddish urine. The patient also presented the syndrome of inappropriate secretion of antidiuretic hormone (SIADH), motor neuropathy and respiratory failure. These clinical features were diagnosed as consequence of a porphyria crisis. The specific diagnosis was made with an elevated urinary porphobilinogen level (185.7 mg/24hours) and genetic analysis, which showed a rare pathogenic variant of the PPOX gene (nucleotide change: c.78C>A and protein change: p.Cys26*). The patient required intensive care until the administration of specific treatment with hemin. Conclusion: We report a case of VP with a pathogenic variant in the PPOX gene. [ABSTRACT FROM AUTHOR]

Published
2023
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2. Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria.

Author

Solares, Isabel, Jericó, Daniel, Córdoba, Karol M., Morales-Conejo, Montserrat, Ena, Javier, Enríquez de Salamanca, Rafael, and Fontanellas, Antonio

Subjects
*ACUTE intermittent porphyria, *CARBOHYDRATE metabolism, *INSULIN resistance, *DISEASE prevalence, *APOLIPOPROTEIN A, *HOMEOSTASIS, *RNA metabolism, *HIGH density lipoproteins
Abstract

Porphobilinogen deaminase (PBGD) haploinsufficiency (acute intermittent porphyria, AIP) is characterized by neurovisceral attacks associated with high production, accumulation and urinary excretion of heme precursors, δ-aminolevulinic acid (ALA) and porphobilinogen (PBG). The estimated clinical penetrance for AIP is extremely low (<1%), therefore it is likely that other factors may play an important role in the predisposition to developing attacks. Fasting is a known triggering factor. Given the increased prevalence of insulin resistance in patients and the large urinary loss of succinyl-CoA to produce ALA and PBG, we explore the impact of reduced availability of energy metabolites in the severity of AIP pathophysiology. Classic studies found clinical improvement in patients affected by AIP associated with the administration of glucose and concomitant insulin secretion, or after hyperinsulinemia associated with diabetes. Molecular studies have confirmed that glucose and insulin administration induces a repressive effect on hepatic ALA Synthase, the first and regulatory step of the heme pathway. More recently, the insulin-mimicking α-lipoic acid has been shown to improve glucose metabolism and mitochondrial dysfunction in a hepatocyte cell line transfected with interfering RNA targeting PBGD. In AIP mice, preventive treatment with an experimental fusion protein of insulin and apolipoprotein A-I improved the disease by promoting fat mobilization in adipose tissue, increasing the metabolite bioavailability for the TCA cycle and inducing mitochondrial biogenesis in the liver. In this review, we analyze the possible mechanisms underlying abnormal hepatocellular carbohydrate homeostasis in AIP. [ABSTRACT FROM AUTHOR]

Published
2023
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3. Acute hepatic porphyria - classification, diagnosis and treatment

Author

Aleksandra Czekaj, Kinga Ruszel, Robert Dubel, Julia Dubel, and Natalia Namroży

Subjects
porphyria, hepatic porphyrias, heme, metabolic diseases, Education, Sports, GV557-1198.995, Medicine
Abstract

Porphyrias belong to the group of inherited metabolic diseases. Each of the four types of acute hepatic porphyria is caused by a different mutation in the gene of an enzyme involved in the heme biosynthetic pathway. The literature distinguishes between: Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP) and Aminolevulinic Dehydratic ADP (ADP) deficiency. -deficient Porphyria). Deficiency of individual enzymes leads to ineffective heme production and accumulation of neurotoxic intermediates - the so-called porphyrins. Two excess metabolites are of major importance in diagnostics - ALA (amionolevulinic acid) and PBG (porphobilinogen). In most cases, the activity of the less functional enzyme is so high that the disease never becomes apparent (latent form). Excessive accumulation of porphyrin precursors is associated with exposure to porphyrinogenic factors, leading to a seizure whose symptoms are closely related to autonomic, peripheral neuropathy, and accompanying neuropsychiatric disorders. In diagnostics, particular attention should be paid to the circumstances of the symptoms and the history of the patient's disease, which often includes numerous episodes of unexplained abdominal pain, which was so severe that it forced the patient to report to emergency departments. A severe attack of porphyria is a medical emergency and requires hospitalization. Failure to diagnose or properly treat it may result in flaccid tetraplegia, respiratory failure, brain edema, coma, and sudden circulation detention.

Published
2022
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4. New Findings Reported from University of Toronto Describe Advances in Hepatic Porphyrias (Canadian Guidance for Diagnosis and Management of Acute Hepatic Porphyrias).

Subjects
INBORN errors of metabolism, CLINICAL trials, METABOLIC disorders, MEDICAL screening, SKIN diseases
Abstract

A recent report from the University of Toronto discusses the diagnosis and management of acute hepatic porphyrias (AHP), which are rare genetic conditions that result in a deficiency of heme metabolizing enzymes. Common symptoms include severe abdominal pain, nausea, confusion, and neuropathy. Diagnosis can be challenging due to the non-specific nature of the symptoms, but early diagnosis is crucial for timely treatment. The report highlights the efficacy of a novel treatment called givosiran in reducing acute attacks and emphasizes the importance of improving awareness and outcomes of AHP through recommendations for diagnosis, monitoring, and treatment. [Extracted from the article]

Published
2024

5. Research on Porphyria Cutanea Tarda Published by Researchers at Cumming School of Medicine (Nail Bed Regeneration by Excision of Distal Scarred Matrix in a Patient with Porphyria Cutanea Tarda).

Subjects
PORPHYRIA, RESEARCH personnel, INBORN errors of metabolism, NAILS (Anatomy), SKIN diseases
Abstract

The article reports on a study from Cumming School of Medicine that details a successful technique for nail bed regeneration in a patient with porphyria cutanea tarda. Topics discussed include the use of a crescent-shaped wedge excision to improve nail bed length, the effectiveness of the technique in meeting patient goals, and the relevance of the method for treating onycholysis secondary to scarring.

Published
2024

6. Acute hepatic porphyrias for the neurologist: current concepts and perspectives

Author

Paulo Victor Sgobbi de Souza, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Eduardo Augusto Gonçalves, Wladimir Bocca Vieira de Rezende Pinto, and Acary Souza Bulle Oliveira

Subjects
Neuromuscular Diseases, Porphyria, Inborn Errors of Metabolism, Acute Intermittent Porphyria, Hepatic Porphyrias, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

ABSTRACT Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias. Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias. Results: Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients. Conclusions: This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice.

Published
2021
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7. Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria

Author

Isabel Solares, Daniel Jericó, Karol M. Córdoba, Montserrat Morales-Conejo, Javier Ena, Rafael Enríquez de Salamanca, and Antonio Fontanellas

Subjects
hepatic porphyrias, acute intermittent porphyria, fasting, glucose homeostasis, insulin resistance, mitochondrial function and biogenesis, Biology (General), QH301-705.5, Chemistry, QD1-999
Abstract

Porphobilinogen deaminase (PBGD) haploinsufficiency (acute intermittent porphyria, AIP) is characterized by neurovisceral attacks associated with high production, accumulation and urinary excretion of heme precursors, δ-aminolevulinic acid (ALA) and porphobilinogen (PBG). The estimated clinical penetrance for AIP is extremely low (

Published
2022
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8. Coproporfiria hereditaria.

Author

ANDRÉS HURTADO-MAYOR, JORGE, CASTRO-HENAO, JULIANA, SALAZAR-CUEVAS, MARÍA CAMILA, ANDRÉS BARRIOS-ARROYAVE, FREDDY, and DUQUE-ARIAS, MÓNICA

Abstract

Copyright of Acta Medica Colombiana is the property of Acta Medica Colombiana and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2021
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9. University of California Researcher Describes Findings in Hepatic Porphyrias (Reducing diagnostic delays in acute hepatic porphyria using health records data and machine learning).

Subjects
DELAYED diagnosis, MEDICAL records, MACHINE learning, PORPHYRIA, MEDICAL care
Abstract

A recent study conducted by researchers at the University of California has found that machine learning (ML) and electronic health records (EHR) data can help reduce diagnostic delays in acute hepatic porphyria (AHP), a group of rare but treatable conditions. The study used structured and notes-based EHR data from two centers at the University of California to develop models that predict which patients will be referred for testing and who will test positive for AHP. The models achieved high accuracy rates, with the best diagnosis model achieving an F-score of 92%. However, further validation and coordination across multiple centers are needed before these models can be deployed. [Extracted from the article]

Published
2024

11. Acute hepatic porphyrias for the neurologist: current concepts and perspectives.

Author

de SOUZA, Paulo Victor Sgobbi, BADIA, Bruno de Mattos Lombardi, FARIAS, Igor Braga, GONÇALVES, Eduardo Augusto, PINTO, Wladimir Bocca Vieira de Rezende, and OLIVEIRA, Acary Souza Bulle

Abstract

Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2021
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12. Investigators at Icahn School of Medicine at Mount Sinai Report Findings in Cancer Gene Therapy (Case-based Discussion of the Acute Hepatic Porphyrias: Updates On Pathogenesis, Diagnosis and Management).

Subjects
CANCER genes, GENE therapy, CANCER treatment, DIAGNOSIS, INBORN errors of metabolism
Abstract

A recent report from the Icahn School of Medicine at Mount Sinai discusses the acute hepatic porphyrias (AHPs), a group of rare genetic disorders characterized by episodic acute neurovisceral attacks. These attacks can be life-threatening if left untreated. Diagnosis of AHPs is often delayed due to non-specific symptoms, but specialized biochemical testing can confirm the diagnosis. Treatment options include intravenous hemin infusions for moderate or severe attacks, and prophylactic treatments such as givosiran for patients with recurrent attacks. Long-term complications, including chronic kidney disease and hepatocellular carcinoma, can occur in AHP patients, so surveillance is recommended. The report provides an update on the pathogenesis, diagnosis, and treatment of AHPs based on literature review and clinical experiences. [Extracted from the article]

Published
2024

13. New Hepatic Porphyrias Research from University of Texas Health Science Center Houston Described (Acute hepatic porphyrias - a guide for Hepatologists).

Subjects
MEDICAL centers, INBORN errors of metabolism
Abstract

A recent report from the University of Texas Health Science Center Houston provides a guide for hepatologists on acute hepatic porphyrias (AHPs). AHPs are rare inherited disorders that affect the heme biosynthesis pathway and typically present with acute abdominal pain and other neurovisceral symptoms. The report emphasizes the importance of early diagnosis and treatment, as AHPs are highly treatable conditions with good outcomes. It also highlights the need for accurate testing and proper management to prevent complications and reduce the burden of disease. [Extracted from the article]

Published
2024

14. Data from Massachusetts General Hospital Advance Knowledge in Hepatic Porphyrias (Efficacy and Safety of Givosiran for Acute Hepatic Porphyria: Final Results of the Randomized Phase Iii Envision Trial).

Subjects
CLINICAL trials, PORPHYRIA, INBORN errors of metabolism, HEPATIC veno-occlusive disease, SYMPTOMS, CLUSTER headache, HOSPITALS
Abstract

A recent study conducted at Massachusetts General Hospital in Boston, Massachusetts, has found that givosiran, a treatment for acute hepatic porphyria (AHP), has shown promising results in reducing attacks and other symptoms associated with the condition. The study involved 94 patients with AHP who were randomized to receive either givosiran or a placebo for 6 months. The results showed that givosiran treatment significantly reduced the frequency of attacks and improved the overall quality of life for patients. The study concluded that long-term monthly givosiran treatment can provide sustained and continued improvement in the clinical manifestations of AHP. [Extracted from the article]

Published
2024

15. Researchers from Department of Gastroenterology Detail Findings in Hepatic Porphyrias (Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims...).

Subjects
PORPHYRIA, RESEARCH personnel, INBORN errors of metabolism, SYMPTOMS, GENETIC disorders
Abstract

A recent study conducted in Japan examined the clinical features of acute hepatic porphyria (AHP), a group of rare genetic diseases. The study analyzed data from patients with AHP between 2008 and 2020 and compared them to a matched population without AHP. The findings revealed that patients with AHP experienced a high clinical burden, including acute attacks, chronic symptoms, and long-term complications. The study emphasizes the importance of recognizing the signs and symptoms of AHP for early diagnosis and effective disease management. [Extracted from the article]

Published
2023

16. University of Pittsburgh Researcher Releases New Data on Hepatic Porphyrias (The Hepatic Porphyrias: Revealing the Complexities of a Rare Disease).

Subjects
RARE diseases, RESEARCH personnel, DATA release, INBORN errors of metabolism, BIOLOGICAL pigments, METABOLIC disorders
Abstract

A recent report from the University of Pittsburgh discusses the complexities of hepatic porphyrias, a group of metabolic disorders caused by defects in heme biosynthesis pathway enzymes. These disorders result in the accumulation of heme precursors, leading to neurovisceral and/or cutaneous photosensitivity. The liver is often affected by excess porphyrins, and hepatic dysfunction can range from minor abnormalities to liver failure. The report provides an overview of the defects in heme biosynthesis enzymes, as well as the pathophysiology, diagnosis, and complications of hepatic porphyrias. It also discusses the cellular consequences of porphyrin accumulation and current therapies for managing symptoms. [Extracted from the article]

Published
2023

17. Understanding carbohydrate metabolism and insulin resistance in acute intermittent porphyria

Author

Solares, I. (Isabel), Jericó-Asenjo, D. (Daniel), Córdoba, K.M. (Karol M.), Morales-Conejo, M. (Monserrat), Ena, J. (Javier), Enriquez-de-Salamanca, R. (Rafael), and Fontanellas, A. (Antonio)

Subjects
Hepatic porphyrias, Mitochondrial function and biogenesis, Acute intermittent porphyria, Insulin resistance, Fasting, Glucose homeostasis
Abstract

Porphobilinogen deaminase (PBGD) haploinsufficiency (acute intermittent porphyria, AIP) is characterized by neurovisceral attacks associated with high production, accumulation and urinary excretion of heme precursors, delta-aminolevulinic acid (ALA) and porphobilinogen (PBG). The estimated clinical penetrance for AIP is extremely low (

Published
2023

18. Recent Findings from University of Texas Medical Branch Provides New Insights into Hepatic Porphyrias (Acute Hepatic Porphyrias: Recommendations for Diagnosis and Management With Real-world Examples).

Subjects
INBORN errors of metabolism, DIAGNOSIS
Abstract

Keywords: Galveston; State:Texas; United States; North and Central America; Diagnostics and Screening; Genetics; Health and Medicine; Hepatic Porphyrias; Inborn Errors Metabolism; Liver Diseases and Conditions; Metabolic Diseases and Conditions; Metabolic Skin Diseases and Conditions; Nutritional and Metabolic Diseases and Conditions; Porphyria; Porphyrias EN Galveston State:Texas United States North and Central America Diagnostics and Screening Genetics Health and Medicine Hepatic Porphyrias Inborn Errors Metabolism Liver Diseases and Conditions Metabolic Diseases and Conditions Metabolic Skin Diseases and Conditions Nutritional and Metabolic Diseases and Conditions Porphyria Porphyrias 641 641 1 11/06/23 20231106 NES 231106 2023 NOV 6 (NewsRx) -- By a News Reporter-Staff News Editor at Gastroenterology Week -- Investigators discuss new findings in Liver Diseases and Conditions - Hepatic Porphyrias. Keywords for this news article include: Galveston, Texas, United States, North and Central America, Diagnostics and Screening, Genetics, Health and Medicine, Hepatic Porphyrias, Inborn Errors Metabolism, Liver Diseases and Conditions, Metabolic Diseases and Conditions, Metabolic Skin Diseases and Conditions, Nutritional and Metabolic Diseases and Conditions, Porphyria, Porphyrias, University of Texas Medical Branch. Galveston, State:Texas, United States, North and Central America, Diagnostics and Screening, Genetics, Health and Medicine, Hepatic Porphyrias, Inborn Errors Metabolism, Liver Diseases and Conditions, Metabolic Diseases and Conditions, Metabolic Skin Diseases and Conditions, Nutritional and Metabolic Diseases and Conditions, Porphyria, Porphyrias. [Extracted from the article]

Published
2023

20. Coproporfiria hereditaria

Author

HURTADO-MAYOR, JORGE ANDRÉS, CASTRO-HENAO, JULIANA, SALAZAR-CUEVAS, MARÍA CAMILA, BARRIOS-ARROYAVE, FREDDY ANDRÉS, and DUQUE-ARIAS, MONICA

Subjects
hepatic porphyrias, dolor abdominal, porfirias hepáticas, differential diagnosis, abdominal pain, hereditary coproporphyria, coproporfiria hereditaria, pruebas genéticas, genetic tests, diagnóstico diferencial
Abstract

Hereditary coproporphyria (HCP) is a congenital, autosomal dominant disorder which occurs in approximately two to five people per million inhabitants, worldwide. It is a diagnostic challenge in patients with acute abdominal pain. We present the case of a 17-year-old adolescent who debuted with atypical abdominal pain with no clear etiology. Elevated urinary porphobilinogen was found, which was treated with hematin. A genetic study concluded that the adolescent was a heterozygous carrier of the c.717T>A; p.Cys239 pathogenic nonsense mutation in the CPOX gene, leading to a diagnosis of hereditary copropophyria. The available national literature has presented cases diagnosed with acute intermittent porphyria in patients with abdominal pain of unknown origin, without covering the existing classifications of hepatic porphyrias and without detailing the genetic diagnosis; thus, this case is a contribution to the national case studies. (Acta Med Colomb 2021; 46. DOI:https://doi.org/10.36104/amc.2021.1950). Resumen La coproporfiria hereditaria (CPH) es un trastorno congênito, autosómico dominante, que se presenta en aproximadamente dos a cinco personas por cada millón de habitantes a nivel mundial. Constituye un reto diagnóstico en aquellos pacientes que cursan con dolor abdominal agudo. Se presenta el caso de una adolescente de 17 años que debutó con un cuadro atípico de dolor abdominal sin etiología clara. Se le documentó porfobilinógeno elevado en orina y fue tratada con hematina. El estudio genético realizado concluyó condición de portadora hererocigota de la variante nonsense patogénica c.717T>A; p.Cys239 en el gen CPOX, permitiendo diagnosticar una coproporfiria hereditaria. La literatura nacional disponible ha presentado casos con diagnóstico de porfiria aguda intermitente en pacientes con dolor abdominal de origen no específico, sin abordar las clasificaciones existentes de las porfirias hepáticas y sin detallar el diagnóstico genético, por lo cual el presente caso es un aporte a la casuística nacional. (Acta Med Colomb 2021; 46. DOI:https://doi.org/10.36104/amc.2021.1950).

Published
2022

21. A clinical case of hepato-erythropoietic porphyria associated with type 1 diabetes mellitus

Author

González, Verónica, Zabala, Cristina, Mastroianni, Lucía, Cabrera, Ángela, and Lemes, Aída

Subjects
Erythropoietic porphyria, Niño, Hepatic porphyrias, Porfirias hepáticas, Porfiria eritropoética, Criança, Heme, Hemo, Child, Porfiria eritropoyética
Abstract

Resumen: Las porfirias son un grupo complejo y heterogéneo de defectos en la vía de la síntesis del hemo. La porfiria hepato eritropoyética es un subtipo muy poco frecuente y de presentación en la infancia, con compromiso cutáneo predominante. Describimos el caso clínico de una paciente de 5 años, que se presenta con lesiones cutáneas e hipertricosis, se confirma el diagnóstico por elevación de uroporfirinas en orina y secuenciación del gen UROD. Summary: Porphyria is a complex and heterogeneous group of heme synthesis disorder. Hepato-erythropoietic porphyria is a very rare subtype that onsets in childhood, and shows predominant skin involvement. We describe the clinical case of a 5-year-old patient who showed skin lesions and hypertrichosis and whose diagnosis was confirmed due to increased uroporphyrins in urine and UROD gene sequencing Resumo: A porfiria é um grupo complexo e heterogêneo de distúrbios da síntese do grupo heme. A porfiria hepato-eritropoiética é um subtipo muito raro que se inicia na infância e mostra envolvimento predominante da pele. Descrevemos o caso clínico de uma paciente de 5 anos que apresentou lesões cutâneas e hipertricose e cujo diagnóstico foi confirmado por aumento de uroporfirinas na urina e sequenciamento do gene UROD.

Published
2021

22. Findings from University of California San Francisco (UCSF) Provides New Data on Hepatic Porphyrias (Aga Clinical Practice Update On Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review).

Abstract

Keywords: San Francisco; State:California; United States; North and Central America; Diagnostics and Screening; Drugs and Therapies; Health and Medicine; Hemin; Hepatic Porphyrias; Inborn Errors Metabolism; Liver Diseases and Conditions; Metabolic Diseases and Conditions; Metabolic Skin Diseases and Conditions; Nutritional and Metabolic Diseases and Conditions; Porphyria; Porphyrias; Risk and Prevention EN San Francisco State:California United States North and Central America Diagnostics and Screening Drugs and Therapies Health and Medicine Hemin Hepatic Porphyrias Inborn Errors Metabolism Liver Diseases and Conditions Metabolic Diseases and Conditions Metabolic Skin Diseases and Conditions Nutritional and Metabolic Diseases and Conditions Porphyria Porphyrias Risk and Prevention 606 606 1 07/03/23 20230707 NES 230707 2023 JUL 7 (NewsRx) -- By a News Reporter-Staff News Editor at Drug Week -- A new study on Liver Diseases and Conditions - Hepatic Porphyrias is now available. According to news reporting originating from San Francisco, California, by NewsRx correspondents, research stated, "DESCRIPTION: The acute hepatic porphyrias (AHP) are rare, inborn errors of heme-metabolism and include acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of 5-aminolevulinic acid dehy-dratase. [Extracted from the article]

Published
2023

24. Research Conducted at Alnylam Pharmaceuticals Inc. Has Updated Our Knowledge about Hepatic Porphyrias (Pharmacokinetic-pharmacodynamic Model of Urinary Delta-aminolevulinic Acid Reduction After Givosiran Treatment In Patients With Acute Hepatic...).

Abstract

Keywords: Cambridge; State:Massachusetts; United States; North and Central America; Amino Acids; Aminolevulinic Acid; Biopharmaceutical Companies; Biotechnology; Business; Genetics; Health and Medicine; Healthcare Biotechnology Companies; Hepatic Porphyrias; Inborn Errors Metabolism; Levulinic Acids; Liver Diseases and Conditions; Metabolic Skin Diseases and Conditions; Nutritional and Metabolic Diseases and Conditions; Pharmaceutical Companies; Pharmaceuticals; Pharmacodynamics; Pharmacokinetics; Pharmacology; Photosensitizing Agents; Porphyria; Porphyrias EN Cambridge State:Massachusetts United States North and Central America Amino Acids Aminolevulinic Acid Biopharmaceutical Companies Biotechnology Business Genetics Health and Medicine Healthcare Biotechnology Companies Hepatic Porphyrias Inborn Errors Metabolism Levulinic Acids Liver Diseases and Conditions Metabolic Skin Diseases and Conditions Nutritional and Metabolic Diseases and Conditions Pharmaceutical Companies Pharmaceuticals Pharmacodynamics Pharmacokinetics Pharmacology Photosensitizing Agents Porphyria Porphyrias 726 726 1 05/02/23 20230505 NES 230505 2023 MAY 1 (NewsRx) -- By a News Reporter-Staff News Editor at Gene Therapy Weekly -- Fresh data on Liver Diseases and Conditions - Hepatic Porphyrias are presented in a new report. Cambridge, State:Massachusetts, United States, North and Central America, Amino Acids, Aminolevulinic Acid, Biopharmaceutical Companies, Biotechnology, Business, Genetics, Health and Medicine, Healthcare Biotechnology Companies, Hepatic Porphyrias, Levulinic Acids, Inborn Errors Metabolism, Liver Diseases and Conditions, Metabolic Skin Diseases and Conditions, Nutritional and Metabolic Diseases and Conditions, Pharmaceutical Companies, Pharmaceuticals, Pharmacodynamics, Pharmacokinetics, Pharmacology, Porphyria, Porphyrias, Photosensitizing Agents. [Extracted from the article]

Published
2023

25. Findings from Icahn School of Medicine at Mount Sinai in RNAi-Based Therapy Reported (RNA interference therapy in Acute Hepatic Porphyrias).

Subjects
RNA interference, INBORN errors of metabolism, DRUGS, METABOLIC disorders
Abstract

Biological Factors, Biotechnology, Cancer, Cancer Gene Therapy, Clinical Trials and Studies, Drugs and Therapies, Gene Therapy, Genetics, Health and Medicine, Heme, Inborn Errors Metabolism, Hepatic Porphyrias, Liver Cancer, Liver Diseases and Conditions, Metabolic Diseases and Conditions, Metabolic Skin Diseases and Conditions, Metalloporphyrins, Nutritional and Metabolic Diseases and Conditions, Oncology, Pharmaceuticals, Porphyria, Porphyrias, Post-Trial Research, RNAi-Based Therapy, Risk and Prevention, Therapy Keywords: Biological Factors; Biotechnology; Cancer; Cancer Gene Therapy; Clinical Trials and Studies; Drugs and Therapies; Gene Therapy; Genetics; Health and Medicine; Heme; Hepatic Porphyrias; Inborn Errors Metabolism; Liver Cancer; Liver Diseases and Conditions; Metabolic Diseases and Conditions; Metabolic Skin Diseases and Conditions; Metalloporphyrins; Nutritional and Metabolic Diseases and Conditions; Oncology; Pharmaceuticals; Porphyria; Porphyrias; Post-Trial Research; RNAi-Based Therapy; Risk and Prevention; Therapy EN Biological Factors Biotechnology Cancer Cancer Gene Therapy Clinical Trials and Studies Drugs and Therapies Gene Therapy Genetics Health and Medicine Heme Hepatic Porphyrias Inborn Errors Metabolism Liver Cancer Liver Diseases and Conditions Metabolic Diseases and Conditions Metabolic Skin Diseases and Conditions Metalloporphyrins Nutritional and Metabolic Diseases and Conditions Oncology Pharmaceuticals Porphyria Porphyrias Post-Trial Research RNAi-Based Therapy Risk and Prevention Therapy 11 11 1 04/24/23 20230424 NES 230424 2023 APR 24 (NewsRx) -- By a News Reporter-Staff News Editor at Cancer Gene Therapy Week -- New research on RNAi-based therapy is the subject of a new report. [Extracted from the article]

Published
2023

26. Researchers from "Carol Davila" University of Medicine and Pharmacy Publish Research in Hepatic Porphyrias (Acute Hepatic Porphyria - Minireview).

Subjects
PORPHYRIA, INBORN errors of metabolism, PHARMACY, METABOLIC disorders
Abstract

Health and Medicine, Hepatic Porphyrias, Inborn Errors Metabolism, Liver Diseases and Conditions, Metabolic Skin Diseases and Conditions, Nutritional and Metabolic Diseases and Conditions, Porphyria, Porphyrias, Risk and Prevention Keywords: Health and Medicine; Hepatic Porphyrias; Inborn Errors Metabolism; Liver Diseases and Conditions; Metabolic Skin Diseases and Conditions; Nutritional and Metabolic Diseases and Conditions; Porphyria; Porphyrias; Risk and Prevention EN Health and Medicine Hepatic Porphyrias Inborn Errors Metabolism Liver Diseases and Conditions Metabolic Skin Diseases and Conditions Nutritional and Metabolic Diseases and Conditions Porphyria Porphyrias Risk and Prevention 699 699 1 04/10/23 20230413 NES 230413 2023 APR 10 (NewsRx) -- By a News Reporter-Staff News Editor at Gastroenterology Week -- Fresh data on hepatic porphyrias are presented in a new report. [Extracted from the article]

Published
2023

27. Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria.

Author

Solares I, Jericó D, Córdoba KM, Morales-Conejo M, Ena J, Enríquez de Salamanca R, and Fontanellas A

Subjects
Animals, Mice, Aminolevulinic Acid metabolism, Carbohydrate Metabolism, Glucose therapeutic use, Heme metabolism, Hydroxymethylbilane Synthase genetics, Insulin metabolism, Porphobilinogen urine, Humans, Insulin Resistance, Porphyria, Acute Intermittent genetics, Porphyria, Acute Intermittent therapy
Abstract

Porphobilinogen deaminase (PBGD) haploinsufficiency (acute intermittent porphyria, AIP) is characterized by neurovisceral attacks associated with high production, accumulation and urinary excretion of heme precursors, δ-aminolevulinic acid (ALA) and porphobilinogen (PBG). The estimated clinical penetrance for AIP is extremely low (<1%), therefore it is likely that other factors may play an important role in the predisposition to developing attacks. Fasting is a known triggering factor. Given the increased prevalence of insulin resistance in patients and the large urinary loss of succinyl-CoA to produce ALA and PBG, we explore the impact of reduced availability of energy metabolites in the severity of AIP pathophysiology. Classic studies found clinical improvement in patients affected by AIP associated with the administration of glucose and concomitant insulin secretion, or after hyperinsulinemia associated with diabetes. Molecular studies have confirmed that glucose and insulin administration induces a repressive effect on hepatic ALA Synthase, the first and regulatory step of the heme pathway. More recently, the insulin-mimicking α-lipoic acid has been shown to improve glucose metabolism and mitochondrial dysfunction in a hepatocyte cell line transfected with interfering RNA targeting PBGD. In AIP mice, preventive treatment with an experimental fusion protein of insulin and apolipoprotein A-I improved the disease by promoting fat mobilization in adipose tissue, increasing the metabolite bioavailability for the TCA cycle and inducing mitochondrial biogenesis in the liver. In this review, we analyze the possible mechanisms underlying abnormal hepatocellular carbohydrate homeostasis in AIP., Competing Interests: The authors declare no conflict of interest.

Published
2022
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28. Porfirias hepáticas agudas para o neurologista: conceitos atuais e perspectivas

Author

Paulo Victor Sgobbi de Souza, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Eduardo Augusto Gonçalves, Wladimir Bocca Vieira de Rezende Pinto, and Acary Souza Bulle Oliveira

Subjects
medicine.medical_specialty, Genetic counseling, Neurosciences. Biological psychiatry. Neuropsychiatry, Emergency treatment, 03 medical and health sciences, 0302 clinical medicine, Acute Intermittent Porphyria, Medicine, Humans, Neurologists, RNA, Small Interfering, Intensive care medicine, Erros Inatos do Metabolismo, 030304 developmental biology, Acute intermittent porphyria, 0303 health sciences, Doenças Neuromusculares, Porphyria, business.industry, Inborn Errors of Metabolism, Porphobilinogen Synthase, Neuromuscular Diseases, medicine.disease, Review article, Porphyrias, Hepatic, Acute porphyrias, Porfiria Aguda Intermitente, Neurology, Intravenous glucose, Porphyria, Acute Intermittent, Hepatic Porphyrias, Neurology (clinical), Porfirias Hepáticas, Differential diagnosis, business, Porfirias, 030217 neurology & neurosurgery, RC321-571
Abstract

Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias. Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias. Results: Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients. Conclusions: This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice. RESUMO Introdução: As porfirias hepáticas agudas representam um grupo de doenças metabólicas hereditárias complexas em expansão, decorrentes de erros inatos do metabolismo, envolvendo a via de biossíntese do grupamento heme. Objetivo: realizar revisão dos principais aspectos clínicos e terapêuticos associados com as porfirias hepáticas agudas. Métodos: Os autores realizaram ampla revisão não-sistemática sobre conceitos atuais e conhecimentos recentemente adquiridos. Resultados: Ataques neuroviscerais agudos representam a apresentação clínica mais comum e de maior risco, e são comumente considerados como principal manifestação na prática clínica durante o diagnóstico diferencial e início apropriado da investigação diagnóstica para porfirias agudas. Entretanto, apresentações atípicas com envolvimento do sistema nervoso central, alterações neuropsiquiátricas e alguns subtipos com fotossensibilidade fazem com que o diagnóstico definitivo seja comumente difícil e tardio. As intervenções terapêuticas precoces são essenciais durante o tratamento emergencial e em período intercrítico evitando formas recorrentes graves. A disponibilidade de novas propostas terapêuticas modificadoras de doença baseadas em terapias com pequenas moléculas de RNA de interferência (siRNA) complementares aos clássicos tratamentos com infusão de glicose intravenosa e à base de hemina enfatiza a importância do diagnóstico precoce de tais pacientes e do aconselhamento genético. Conclusões: Este artigo de revisão destaca os principais aspectos bioquímicos, fisiopatológicos, clínicos e terapêuticos das porfirias hepáticas agudas na prática clínica.

Published
2021

29. Seltenere hereditäre Lebererkrankungen.

Author

Schultheiß, M., Boettler, T., and Blum, H.E.

Abstract

Copyright of Der Gastroenterologe is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2008
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30. Diagnosis and treatment of the hepatic porphyrias.

Author

Lecha, M., Herrero, C., and Ozalla, D.

Subjects
*PORPHYRIA, *PIGMENTATION disorders, *DIAGNOSIS, *THERAPEUTICS
Abstract

Porphyrias are a peculiar group of diseases resulting from hereditary or acquired partial deficiencies in seven of the eight enzymes in the biosynthetic pathway of heme. Biosynthesis of heme takes place in the erythropoietic system or in the hepatic tissue. Depending on the main location of the enzyme defect, porphyrias can be classified as erythropoietic or hepatic. There are seven basic clinical forms of porphyria related to a deficiency of each of the involved enzymes. Clinical manifestations in porphyria may be neurovisceral or cutaneous. Patients may present with acute attacks (acute porphyrias), cutaneous lesions (cutaneous porphyrias), or both (mixed porphyrias). Study of patients supected of having porphyria should include several steps: 1) clinical evaluation, 2) biochemical study, which enables us to classify the patient to a specific form of porphyria, followed if possible by 3) enzymatic assay(s), and 4) genetic studies to confirm an enzyme deficiency and its level and the causal genetic mutation. Unfortunately no curative treatment is available for any of the porphyrias. However, symptomatic treatments are available and are discussed in this article. [ABSTRACT FROM AUTHOR]

Published
2003
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