ALLMedicine™ Acute Intermittent Porphyria Center

Nov 5th, 2022 - BACKGROUND Acute intermittent porphyria (AIP) is a rare genetic disease caused by the deficiency of porphobilinogen deaminase enzyme in the heme synthesis pathway. AIP is passed by autosomal dominant inheritance. Heterozygous pathogenic variants i...

Oct 17th, 2022 - Acute intermittent porphyria (AIP) is a very rare (orphan) metabolic disorder of porphyrin biosynthesis which is characterized by elevated plasma and urine levels of 5-aminolevulinic acid (5-ALA) and porphobilinogen (PBG). Patients with this disor...

Sep 8th, 2022 - 'Swollen heart' in the course of acute intermittent porphyria associated with severe hyponatraemia.|2022|Jaworski K,Wasilewski R,Szwed H,Windyga J,Dabrowski R,|complications,diagnostic imaging,etiology,

Sep 3rd, 2022 - Porphyrias are rare metabolic disorders of the haem synthesis. They can present with acute neurovisceral attacks, cutaneous symptoms, or a combination of both. As they present with a wide variety of clinical symptoms, diagnosis is often delayed an...

Aug 16th, 2022 - This study proposes to identify the predisposing/protective modifying genes that underlie the acute attacks in symptomatic patients with Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis.

Apr 23rd, 2013 - The British and Irish Porphyria Network guidelines describe best practice in the clinical assessment, investigation and management of acute porphyria attacks and their complications, including severe attacks with neuropathy. Acute attacks of porph...

Aug 16th, 2022 - This study proposes to identify the predisposing/protective modifying genes that underlie the acute attacks in symptomatic patients with Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis.

Jun 7th, 2022 - Electroconvulsive therapy (ECT) is a common treatment method used in severe depression and other psychiatric diseases. Currently, most ECT procedures are carried out with muscle paralysis under general anesthesia. It is important to establish an a...

Nov 26th, 2021 - This is a double-blind, randomized, placebo-controlled, parallel group trial investigating the efficacy and safety of Panhematin™ for preventing acute attacks in at least 20 subjects with well-documented acute porphyria (acute intermittent porphyr...

Nov 24th, 2021 - the main objective of this study to compare the effects of three diets: carbohydrate count with gluten-free diet, DASH and carbohydrate count with gluten-free diet, and gluten-free diet alone on glycemic control, growth rate, and the quality of li...

Nov 17th, 2021 - The purpose of this study is to determine the long-term safety, tolerability and pharmacokinetics of givosiran (ALN-AS1) in AIP patients

Sep 19th, 2022 - European royal families may be enormously rich, but being a blueblood doesn't always mean your blood is pristine. Queen Victoria's DNA is famously believed to have silently bequeathed hemophilia to many of her descendants, including a great-grands...

Nov 7th, 2019 - Pseudoporphyria has a similar presentation to PCT but with no abnormalities in porphyrin metabolism. Risk factors include UV radiation exposure; use of medications such as nonsteroidal anti-inflammatory drugs, diuretics, and retinoids; chronic ren.

Apr 28th, 2019 - The study’s primary endpoint was the average annualized rate of porphyria attacks during 6 months of treatment, which was 3. 2 attacks in 46 patients evaluable for efficacy on givosiran treatment and 12.

Apr 28th, 2019 - VIENNA – A novel RNA-inhibitor drug, givosiran, produced a large cut in acute porphyria attacks in a pivotal trial with 94 patients with acute hepatic porphyria. Although the study also identified some safety issues with givosiran, an RNA-inhibito.

Mar 6th, 2019 - Note that some links may require subscriptions. Fast Company walks through the implications of Purdue Pharma's possible bankruptcy. A British woman says vaping gave her a "horrible" burning rash that landed her in hospital. (Fox News) After allege...