AI Article Synopsis
Article Abstract
A 9-year-old boy with mental deterioration and epilepsy suffered an acute attack of hereditary coproporphyria associated with worsening of seizure control. Leucocyte coproporphyrinogen oxidase activity was undetectable in the patient during this attack, and was reduced in his mother, a latent case. The complex relationship between porphyria, epilepsy, and anticonvulsant drugs is discussed.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1544641 | PMC |
| http://dx.doi.org/10.1136/adc.52.8.646 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Diagnosing Porphyria in a Female Patient With Diffuse Pelvic Pain: A Case Study.
Cureus
November 2024
Pediatrics, West Virginia School of Osteopathic Medicine, Lewisburg, USA.
Porphyria is a rare and often underdiagnosed metabolic disorder that leads to abdominal pain, pelvic pain, changes in neurological states, and digestive issues due to a buildup of porphyrins in the body. Diagnosis can be especially difficult in young women, where symptoms of porphyria often overlap with gynecological conditions. We present a case of a 37-year-old female patient who was experiencing persistent lower abdominal and pelvic pain, brain fog and confusion, and a rash after long sun exposure.
View Article and Find Full Text PDFHepatocellular Carcinoma in Acute Hepatic Porphyria: A Meta-Analysis of Observational Studies.
Dig Dis Sci
November 2024
University of Texas Medical Branch, Galveston, TX, USA.
Article Synopsis
- Hepatocellular carcinoma (HCC) is a potential long-term complication for patients with acute hepatic porphyria (AHP), and this study aims to assess its incidence and identify high-risk groups.
- The meta-analysis included data from 12 studies with 2,735 AHP patients, revealing an overall HCC incidence of 0.3% per year, with higher rates in specific subtypes like acute intermittent porphyria (AIP) and in older females, symptomatic patients, and those with additional liver disease risk factors.
- The findings highlight the need for future research to create effective screening and surveillance strategies for HCC in AHP patients, due to the identified
Therapeutic approach to acute crises of hepatic porphyrias.
Rev Clin Esp (Barc)
December 2024
Unidad de Enfermedades Raras y Autoinmunes Sistémicas, Servicio de Medicina Interna, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
Article Synopsis
- - Acute hepatic porphyria is a genetic disorder that affects the production of heme and is primarily caused by issues with specific enzymes, with acute intermittent porphyria being the most common type.
- - Triggered by factors that induce the enzyme ALA synthase 1, this disorder leads to the buildup of toxic heme intermediates, causing severe symptoms such as abdominal pain, muscle weakness, and autonomic dysfunction; women are more prone to these attacks than men.
- - Prompt recognition and treatment are essential, requiring urgent medical interventions like intravenous opioids and glucose, while preventive measures include hormone suppression and possibly liver transplantation.
Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs.
Semin Liver Dis
May 2024
Department of Experimental Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania.
Article Synopsis
- - Hepatic porphyrias are metabolic disorders where excess porphyrin precursors accumulate in the liver, leading to neurological symptoms and skin sensitivity, with some cases resulting in severe acute neurovisceral attacks.
- - This review focuses on types of acute hepatic porphyrias (like acute intermittent porphyria and hereditary coproporphyria) and those with skin symptoms (like porphyria cutanea tarda), addressing prevalence, symptoms, and treatments.
- - It also explores new treatment options, such as gene therapy using adeno-associated vectors and innovative chaperone therapies like lipid nanoparticles and small interfering RNA-based treatments.
Preimplantation diagnosis and embryo selection in a patient with severe hereditary coproporphyria.
N Z Med J
May 2024
Wellington Regional Hospital, Te Whatu Ora Capital and Coast, New Zealand; Department of Medicine, University of Otago Wellington, New Zealand.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!