ALLMedicine™ Acute Intermittent Porphyria Center
Research & Reviews 117 results
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...
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...
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...
https://doi.org/10.1007/s40265-021-01511-3 10.1002/hep4.1297 10.1056/NEJMra1608634 10.1007/s11910-020-01078-8 10.1002/humu.23067 10.1016/j.amjmed.2014.06.036 10.1016/j.amjmed.2014.10.026 10.1002/hep.29313 10.1177/0004563212474555 10.1002/hep.30936 10.1007/s40271-018-0319-3 10.1016/S0140-6736(09)61925-5 10.1111/joim.12750 10.1007/s40291-019-00438-6 10.1016/j.ymthe.2020.06.015 10.1056/NEJMe2010986 10.1073/pnas.1406228111 10.1038/mtna.2015.36 10.1056/NEJMoa1807838 10.1002/cpt.1802 10.1056/NEJMoa1913147 10.1080/23808993.2021.1838275 10.1016/j.ejim.2020.04.002 10.1358/dot.2021.57.1.3230207
Drugs Syed YY
Apr 20th, 2021 - Givosiran (Givlaari®) is an δ-aminolevulinic acid synthase 1 (ALAS1)-directed small interfering RNA (siRNA) approved for the treatment of acute hepatic porphyria (AHP). In the phase 3 ENVISION trial, givosiran significantly reduced the annualized ...
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...
Guidelines 1 results
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...
Drugs 44 results see all →
News 3 results
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.
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.
Mar 1st, 2016 - Treatment Treatment targets runaway heme precursor synthesis at its start and finish (Figure). Glucose-loading suppresses the initial enzyme, ALA synthase.