Results 51 to 60 of about 4,704 (177)

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

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

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

La porfiria aguda intermitente y el cirujano: un reto diagnóstico Reporte de un caso y revisión de la literatura Acute intermittent porphyria and the surgeon: a diagnostic challenge. Case report and literature review

Revista Colombiana de Cirugía, 2011
La porfiria intermitente aguda es conocida, en el ámbito de la cirugía, como una de las causas de abdomen agudo no quirúrgico. No obstante, lo que no se menciona con frecuencia es la posibilidad de que cualquier procedimiento quirúrgico precipite un ...
Lilian Torregrosa, Juan Carlos Ayala, Sergio Cervera, Carlos Andrés Villa   +3 more
doaj  

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

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

Therapeutic Perspectives of SIRT6 Regulation: Computational Analysis of Activation and Inhibition by Bioactive Molecules

Journal of Molecular Recognition, Volume 39, Issue 1, January 2026.
ABSTRACT Sirtuin 6 (SIRT6) is an enzyme belonging to the class of nicotinamide adenine dinucleotide (NAD+) dependent histone deacetylases. It has been of interest due to its multivariate biological role and association with aging‐related diseases and metabolic dysfunctions.
Érika Geicianny de Carvalho Matias, Katyanna Sales Bezerra, Washington Sales Clemente Junior, Jonas Ivan Nobre Oliveira, Douglas Soares Galvão, Umberto Laino Fulco   +5 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

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