Results 21 to 30 of about 36,453 (301)

Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Reversible Cerebral Vasoconstriction Syndrome and Myocardial Ischemia: A Case Report and Review [PDF]

Psychology Research and Behavior Management
Bin Zhang,1,2 Chunqing Bu,3 Yuying Zhao,4 Zhangyong Xia1,5– 7 1Department of Neurology, Liaocheng People’s Hospital, Liaocheng, Shandong, People’s Republic of China; 2Department of Neurology, Qilu Hospital, Shandong University, Jinan, Shandong, People’s ...
Zhang B, Bu C, Zhao Y, Xia Z
doaj   +2 more sources

Acute Intermittent Porphyria’s Symptoms and Management: A Narrative Review

Cureus, 2023
Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis in the liver that is caused by the accumulation of toxic heme metabolites aminolevulinic acid (ALA) and porphobilinogen (PBG) due to a deficiency in the enzyme ...
Esma Z Kizilaslan, N. M. Ghadge, A. Martinez, Michelle B. Bass, Rahul Winayak, Midhun P. Mathew, Rutvi Amin, M. Khan, N. Kizilbash   +8 more
semanticscholar   +1 more source

Givosiran in acute intermittent porphyria: A personalized medicine approach.

Molecular Genetics and Metabolism, 2022
BACKGROUND In patients with acute intermittent porphyria (AIP), induction of delta aminolevulinic acid synthase 1 (ALAS1) leads to haem precursor accumulation that may cause recurring acute attacks.
A. Poli, Caroline Schmitt, Boualem Moulouel, Arienne Mirmiran, N. Talbi, S. Riviére, Diane Cerutti, I. Bouchoule, A. Faivre, V. Grobost, C. Douillard, Francis Duchêne, Valeria Fiorentino, Thierry Dupré, H. Manceau, K. Peoc’h, H. Puy, T. Lefèbvre, L. Gouya   +18 more
semanticscholar   +1 more source

Cutting-Edge Therapies and Novel Strategies for Acute Intermittent Porphyria: Step-by-Step towards the Solution

Biomedicines, 2022
Acute intermittent porphyria (AIP) is an autosomal dominant disease caused by the hepatic deficiency of porphobilinogen deaminase (PBGD) and the slowdown of heme biosynthesis.
M. Longo, E. Paolini, M. Meroni, P. Dongiovanni   +3 more
semanticscholar   +1 more source

Recombinant porphobilinogen deaminase targeted to the liver corrects enzymopenia in a mouse model of acute intermittent porphyria

Science Translational Medicine, 2022
Description Systemic and subcutaneous rApoAI-PBGD therapy protects against porphyrin precursor accumulation, pain, and motor neuropathy in AIP mice. Apoliprotein for enzyme deLIVERing Acute intermittent porphyria (AIP) is a metabolic disorder caused by ...
K. Córdoba, Irantzu Serrano-Mendioroz, Daniel Jericó, María Merino, Lei Jiang, A. Sampedro, M. Alegre, F. Corrales, M. Garrido, P. Martini, J. Lanciego, J. Prieto, P. Berraondo, A. Fontanellas   +13 more
semanticscholar   +1 more source

RNAi therapy with givosiran significantly reduces attack rates in acute intermittent porphyria

Journal of Internal Medicine, 2022
Acute hepatic porphyria (AHP) is a group of inherited metabolic disorders that affect hepatic heme biosynthesis. They are associated with attacks of neurovisceral manifestations that can be life threatening and constitute what is considered an acute ...
Eliane Sardh, P. Harper
semanticscholar   +1 more source

Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria. [PDF]

, 2020
PurposeAcute intermittent porphyria (AIP) is a rare inborn error of heme biosynthesis characterized by life-threatening acute attacks. Few studies have assessed quality of life (QoL) in AIP and those that have had small sample sizes and used tools that ...
Anderson, Karl E, Balwani, Manisha, Bissell, D Montgomery, Bonkovsky, Herbert L, Desnick, Robert J, Erwin, Angelika, Keel, Siobán, Levy, Cynthia, McGuire, Brendan, Montgomery, Guy H, Naik, Hetanshi, Overbey, Jessica R, Phillips, John D, Wang, Bruce, Winkel, Gary   +14 more
core   +1 more source

Reversible Cerebral Vasospasm in Acute Intermittent Porphyria: A Case Report and Review of the Literature

European Journal of Case Reports in Internal Medicine, 2022
The porphyrias are rare inherited diseases of heme biosynthesis which can involve the nervous system. The most common neurological manifestations of acute intermittent porphyria are autonomic visceral neuropathy, peripheral motor neuropathy, and central ...
Attout Hassene, Stephane Guez
doaj   +1 more source

Acute intermittent porphyria

Journal of Anaesthesiology Clinical Pharmacology, 2015
17-year-old female, came with complaints of abdominal pain, vomitings, hypertension. Three days before admission she developed severe abdominal pain, backache and generalised body pains with extreme weakness. These symptoms worsened over 3 days, accompanied by nausea, vomiting, and emotional instability [1]. Her medical history is notable for 6 similar
Syal, Kartik, Bhatt, Rashmi, Singh, Surinder, Ohri, Anil   +3 more
openaire   +4 more sources

Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators

International Journal of Molecular Sciences, 2021
Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low clinical penetrance, caused by mutations in the hydroxymethylbilane synthase (HMBS) gene, which encodes the third enzyme in the haem biosynthesis pathway.
H. J. Bustad, J. Kallio, M. Vorland, Valeria Fiorentino, S. Sandberg, Caroline Schmitt, A. Aarsand, Aurora Martínez   +7 more
semanticscholar   +1 more source