A novel mutation c.457C > T p.Q153 in the HMBS gene in a Mexican woman with acute intermittent porphyria
In this report, we present the case of a Mexican woman with AIP who experienced recurrent episodes of severe abdominal pain, weakness, vomiting, and insomnia. Despite the challenges in diagnosis and treatment, genetic analysis revealed a novel HMBS mutation, c.457C > T (p.Q153X), located in exon 9. This mutation induces a premature translational stop codon and had not been previously reported in medical literature among individuals with AIP. Remarkably, the patient exhibited a positive response to RNA interference therapy. We hypothesize that this novel HMBS mutation may potentially account for the more severe cli...
Source: Clinical Case Reports - October 26, 2023 Category: General Medicine Authors: Jose Malagon ‐Rangel,
Jose Gabriel Solis,
Luis Fernando Zavala‐Jonguitud,
Martín Roberto Basile‐Alvarez,
Andrea Malagon‐Liceaga Tags: CASE REPORT Source Type: research
The burden of disease and quality of life in patients with acute hepatic porphyria: COPHASE study
CONCLUSIONS: Patients with AHP are associated with a high economic impact and an affected HRQoL in the pain/discomfort dimension, with a negative impact on the performance of daily activities and a risk of psychiatric diseases.PMID:37838536 | DOI:10.1016/j.medcli.2023.08.009 (Source: Medicina Clinica)
Source: Medicina Clinica - October 14, 2023 Category: General Medicine Authors: Francisco Javier Castelb ón Fernández Mar ía Barreda Sánchez Elena Arranz Canales Mar ía Encarnación Hernández Contreras Isabel Solares Montserrat Morales Conejo Álvaro Muñoz Cuadrado Araceli Casado G ómez Mar ía Yébenes Cortés Encarna Guill Source Type: research
Biosynthesis of heme and the porphyrias
Med Clin (Barc). 2023 Aug 18:S0025-7753(23)00420-7. doi: 10.1016/j.medcli.2023.04.037. Online ahead of print.NO ABSTRACTPMID:37827890 | DOI:10.1016/j.medcli.2023.04.037 (Source: Medicina Clinica)
Source: Medicina Clinica - October 12, 2023 Category: General Medicine Authors: Jordi To-Figueras Source Type: research
Diagnosis, evaluation and monitoring of acute hepatic porphyria
Med Clin (Barc). 2023 Aug 19:S0025-7753(23)00423-2. doi: 10.1016/j.medcli.2023.07.005. Online ahead of print.NO ABSTRACTPMID:37827888 | DOI:10.1016/j.medcli.2023.07.005 (Source: Medicina Clinica)
Source: Medicina Clinica - October 12, 2023 Category: General Medicine Authors: Isabel Solares Francisco Javier Castelb ón Rafael Enr íquez de Salamanca Montserrat Morales-Conejo Source Type: research
Long-term complications of acute hepatic porphyrias
Med Clin (Barc). 2023 Aug 18:S0025-7753(23)00427-X. doi: 10.1016/j.medcli.2023.04.038. Online ahead of print.NO ABSTRACTPMID:37827887 | DOI:10.1016/j.medcli.2023.04.038 (Source: Medicina Clinica)
Source: Medicina Clinica - October 12, 2023 Category: General Medicine Authors: Jos é Salvador García Morillo Marta P érez Quintana Antonio Riera-Mestre Source Type: research
Impact of acute hepatic porphyrias on the quality of life of patients according to the frequency of crises
Med Clin (Barc). 2023 Sep 15:S0025-7753(23)00422-0. doi: 10.1016/j.medcli.2023.03.040. Online ahead of print.NO ABSTRACTPMID:37827886 | DOI:10.1016/j.medcli.2023.03.040 (Source: Medicina Clinica)
Source: Medicina Clinica - October 12, 2023 Category: General Medicine Authors: Mar ía Barreda-Sánchez Encarna Guill én-Navarro Source Type: research
Pathophysiology of attacks in acute hepatic porphyrias
Med Clin (Barc). 2023 Aug 11:S0025-7753(23)00421-9. doi: 10.1016/j.medcli.2023.05.029. Online ahead of print.NO ABSTRACTPMID:37827885 | DOI:10.1016/j.medcli.2023.05.029 (Source: Medicina Clinica)
Source: Medicina Clinica - October 12, 2023 Category: General Medicine Authors: Delia D'Avola Source Type: research
Therapeutic options for the management of acute hepatic porphyria
Med Clin (Barc). 2023 Aug 11:S0025-7753(23)00425-6. doi: 10.1016/j.medcli.2023.05.028. Online ahead of print.NO ABSTRACTPMID:37827883 | DOI:10.1016/j.medcli.2023.05.028 (Source: Medicina Clinica)
Source: Medicina Clinica - October 12, 2023 Category: General Medicine Authors: Paula Aguilera Peir ó Source Type: research
