ALLMedicine™ Acute Intermittent Porphyria Center

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...

Jun 1st, 2022 - Acute intermittent porphyria (AIP), caused by heterozygous germline mutations of the heme synthesis pathway enzyme HMBS (hydroxymethylbilane synthase), confers high risk of hepatocellular carcinoma (HCC) development. Yet, the role of HMBS in liver...

May 19th, 2022 - The autosomal dominant acute hepatic porphyrias (AHPs), acute intermittent porphyria, hereditary coproporphyria (HCP) and variegate porphyria (VP), are low penetrance adult onset disorders caused by partial deficiency of enzymes of haem biosynthes...

May 19th, 2022 - A 40-year-old man attended the emergency room with abdominal pain and inappropriate behaviour associated with stress, and the consumption of alcohol and cannabis. Examination revealed hypertension (155/100 mmHg), tachycardia (95 beats per minute),...

Feb 17th, 2022 - Acute intermittent porphyria (AIP) is a rare disease caused by a genetic mutation in the hepatic activity of the porphobilinogen-deaminase. We aimed to develop a mechanistic model of the enzymatic restoration effects of a novel therapy based on th...

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...

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

May 18th, 2021 - Hereditary Tyrosinemia type 1 (HT-1) is a rare genetic disorder in which the newborn child lacks the ability to break down the amino acid tyrosine. As a result of this deficiency, toxic sub-stances build up in the blood and can cause liver failure...

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.

Dec 6th, 2017 - NEW YORK (Reuters Health) - Abdominal pain and hyponatremia in a 16-year-old girl with constipation and disordered eating confounded the diagnosis of a much less common condition, acute intermittent porphyria (AIP), according to a case report publ...

Mar 1st, 2016 - Case A 34-year-old woman presented to the ED with severe, persistent abdominal pain that had begun 18 days earlier. She was 7 weeks pregnant and had been seen in the same ED the day before.