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About 413 results

ALLMedicine™ Acute Intermittent Porphyria Center

Research & Reviews  117 results

Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synth...
https://doi.org/10.1111/cge.14063
Clinical Genetics; Yuanxiang H, Weihao L et. al.

Sep 16th, 2021 - A partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase (HMBS) leads to acute intermittent porphyria (AIP),a severe neurovisceral, autosomal dominant disorder with low penetrance.Even though in-depth investigations of the...

Neurology of the acute hepatic porphyrias.
https://doi.org/10.1016/j.jns.2021.117605
Journal of the Neurological Sciences; Oliveira Santos M, Leal Rato M

Aug 11th, 2021 - Porphyrias are a set of rare inherited metabolic disorders, each of them representing a defect in one of the eight enzymes in the haem biosynthetic pathway resulting in the accumulation of organic compounds called porphyrins. Acute hepatic porphyr...

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to bialle...
https://doi.org/10.1002/ajmg.a.62377
American Journal of Medical Genetics. Part A; Stutterd CA, Kidd A et. al.

Jun 6th, 2021 - Pathogenic heterozygous variants in HMBS encoding the enzyme hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase, cause acute intermittent porphyria (AIP). Biallelic variants in HMBS have been reported in a small number of...

Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients rece...
https://doi.org/10.1002/jimd.12391
Journal of Inherited Metabolic Disease; To-Figueras J, Wijngaard R et. al.

Apr 17th, 2021 - Acute intermittent porphyria (AIP) is a rare metabolic disease caused by mutations within the hydroxymethylbilane synthase gene. Previous studies have reported increased levels of plasma total homocysteine (tHcy) in symptomatic AIP patients. In th...

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Guidelines  1 results

Best practice guidelines on clinical management of acute attacks of porphyria and their...
https://doi.org/10.1177/0004563212474555
Annals of Clinical Biochemistry; Stein P, Badminton M et. al.

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...

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Drugs  44 results see all →

News  3 results

Chronic blistering rash on hands
https://www.mdedge.com/familymedicine/article/211805/dermatology/chronic-blistering-rash-hands/page/0/2?channel=203
MDedge Family Medicine;

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.

VIDEO: Givosiran cuts acute intermittent porphyria attacks in pivotal trial
https://www.mdedge.com/internalmedicine/article/199737/hepatology/video-givosiran-cuts-acute-intermittent-porphyria-attacks/page/0/1?channel=39313

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.

Case Report: Acute Intermittent Porphyria
https://www.mdedge.com/emergencymedicine/article/107206/hematology/case-report-acute-intermittent-porphyria/page/0/1

Mar 1st, 2016 - Treatment Treatment targets runaway heme precursor synthesis at its start and finish (Figure). Glucose-loading suppresses the initial enzyme, ALA synthase.

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