Results 41 to 50 of about 5,389 (175)

Psychiatric Disorder in Porphyria: A Case Series

Medical Journal of Dr. D.Y. Patil Vidyapeeth
Porphyria is a group of rare genetic disorders that affect the heme production pathway due to specific enzyme abnormalities. These conditions present diverse clinical symptoms, including gastrointestinal, neurovisceral, cutaneous, neurological, and ...
Poulomi Ghosh, Prashant Bhardwaj, Suprakash Chaudhury, Alisha Kumari   +3 more
doaj   +1 more source

Acute intermittent porphyria: a test of clinical acumen

Journal of Community Hospital Internal Medicine Perspectives, 2017
Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors.
Rashmi Dhital, Sijan Basnet, Dilli Ram Poudel, Khema Raj Bhusal   +3 more
doaj   +1 more source

In Vitro Optimization of Enzymes Involved in Precorrin-2 Synthesis Using Response Surface Methodology.

PLoS ONE, 2016
In order to maximize the production of biologically-derived chemicals, kinetic analyses are first necessary for predicting the role of enzyme components and coordinating enzymes in the same reaction system. Precorrin-2 is a key precursor of cobalamin and
Huan Fang, Huina Dong, Tao Cai, Ping Zheng, Haixing Li, Dawei Zhang, Jibin Sun   +6 more
doaj   +1 more source

Strain engineering and bioprocessing strategies for biobased production of porphobilinogen in Escherichia coli

Bioresources and Bioprocessing, 2021
Strain engineering and bioprocessing strategies were applied for biobased production of porphobilinogen (PBG) using Escherichia coli as the cell factory.
Davinder Lall, Dragan Miscevic, Mark Bruder, Adam Westbrook, Marc Aucoin, Murray Moo-Young, C. Perry Chou   +6 more
doaj   +1 more source

Implanted Progestin Causing Pain and Psychiatric Disturbances in Porphyria Attack: A Case Report

Clinical Practice and Cases in Emergency Medicine, 2023
Introduction: Acute hepatic porphyrias (AHP) are a rare group of inherited disorders caused by abnormal functioning of the heme synthesis pathway. Patients often present with diffuse abdominal pain, neurologic dysfunction, and hyponatremia.
Ryan K. Misek, Massimo F. Riitano
doaj   +1 more source

Microglial SLC25A28 Knockout Mitigates Spinal Cord Injury in Mice by Inhibiting Heme Synthesis and Subsequent NOX2 Activation

CNS Neuroscience &Therapeutics, Volume 31, Issue 11, November 2025.
Microglial SLC25A28 knockout reduces spinal cord injury by inhibiting mitochondrial iron accumulation and heme synthesis, leading to decreased NOX2 activation and neuroinflammation. This study reveals the SLC25A28‐heme‐NOX2 axis as a key regulator of microglial‐driven secondary damage after SCI.
Huangtao Chen, Shaochun Guo, Yanglan Mi, Ruili Han, Yuxin Xi, Tingwei Peng, Longhui Fu, Weidong Liu, Ruiyu Ma, Beibei Yu, Yongfeng Zhang, Luyao Li, Jing Ye, Shouping Gong   +13 more
wiley   +1 more source

A case of fatal acute intermittent porphyria: laboratory diagnosis and pathogenesis considerations / Un caz fatal de porfirie acută intermitentă: diagnostic de laborator şi consideraţii patogenice

Romanian Journal of Laboratory Medicine, 2014
Porfiria acută intermitentă (PAI) este o boală metabolică, cu transmitere autosomal dominantă, cu alterarea căii de biosinteză a hemului prin deficitul enzimei porphobilinogen (PBG) dezaminaza. Acest diagnostic trebuie să fie evocate în toate cazurile de
Bălaşa Rodica, Maier Smaranda, Moţăţăianu Anca, Bajko Zoltan, Moldovan Otilia, Benedek Erzsébet   +5 more
doaj   +1 more source

Rare Coexistence of Acute Intermittent Porphyria With Systemic Lupus Erythematous: Case Report and Literature Review

Journal of Investigative Medicine High Impact Case Reports, 2023
Porphyrias, particularly acute intermittent porphyria (AIP), are rare, inherited disorders of heme synthesis. On the other hand, systemic lupus erythematosus (SLE) is an uncommon autoimmune disease that affects women predominantly. The coexistence of AIP
Asmaa Yusuf MD, Omar Alhaj MD, Afra Aldaheri MD, Aisha AlShamsi MD, Mozah AlMarshoodi MD, Fatima AlKindi MD, Farooqi Mohammed MD, Raya Almazrouei MD   +7 more
doaj   +1 more source

Design Strategies for Novel Lipid Nanoparticle for mRNA Vaccine and Therapeutics: Current Understandings and Future Perspectives

MedComm, Volume 6, Issue 10, October 2025.
This review summarizes strategies to optimize lipid nanoparticles (LNPs) for improved targeting, endosomal escape, and safety. It highlights mRNA design, alternative delivery systems, and recent therapeutic advances across infectious diseases, cancer, and drug applications.
Xiaochi Li, Junli Li, Jiazheng Wei, Weixin Du, Cheng Su, Xiaobin Shen, Aihua Zhao, Miao Xu   +7 more
wiley   +1 more source

A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria

Genetics and Molecular Biology, 2007
Acute intermittent porphyria (AIP, OMIM 176000) is an autosomal dominant metabolic disease caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS; EC 4.3.1.8; formely named porphobilinogen deaminase, PBGD), mapped to chromosome 11q23.
Georgina Severo Ribeiro, Paulo Eurípedes Marchiori, Mário Hiroyuki Hirata, Ivanise Rebecchi, Adriana Natsue Ozaki, Maria Aparecida Nagai, Mariana Lopes dos Santos, Raimundo Antonio Gomes Oliveira, Orlando Cesar de Oliveira Barretto   +8 more
doaj   +1 more source