Results 31 to 40 of about 129 (113)

Acute hepatic porphyria - classification, diagnosis and treatment

Journal of Education, Health and Sport, 2022
Porphyrias belong to the group of inherited metabolic diseases. Each of the four types of acute hepatic porphyria is caused by a different mutation in the gene of an enzyme involved in the heme biosynthetic pathway. The literature distinguishes between:
Aleksandra Czekaj, Kinga Ruszel, Robert Dubel, Julia Dubel, Natalia Namroży   +4 more
doaj   +1 more source

Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias

Case Reports in Hematology, 2013
The porphyrias are a group of disorders characterized by an enzyme deficiency in the heme biosynthetic pathway. These can be classified into either erythropoietic or hepatic forms depending on the site of the major enzyme deficiency.
Henry Trier, Vikram P. Krishnasamy, Pashtoon Murtaza Kasi   +2 more
doaj   +1 more source

Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification

Molecular Therapy: Nucleic Acids, 2015
The acute hepatic porphyrias are caused by inherited enzymatic deficiencies in the heme biosynthesis pathway. Induction of the first enzyme 5-aminolevulinic acid synthase 1 (ALAS1) by triggers such as fasting or drug exposure can lead to accumulation of ...
Amy Chan, Abigail Liebow, Makiko Yasuda, Lin Gan, Tim Racie, Martin Maier, Satya Kuchimanchi, Don Foster, Stuart Milstein, Klaus Charisse, Alfica Sehgal, Muthiah Manoharan, Rachel Meyers, Kevin Fitzgerald, Amy Simon, Robert J Desnick, William Querbes   +16 more
doaj   +1 more source

Assessment of porphyrogenicity of drugs and chemicals in selected hepatic cell culture models through a fluorescence‐based screening assay

Pharmacology Research & Perspectives, 2022
Compounds that induce 5‐aminolevulinic acid [ALA] synthase‐1 and/or cytochromes P‐450 may induce acute porphyric attacks in patients with the acute hepatic porphyrias [AHPs].
Christopher D. Ma, Cynthia G. Van Horn, Meimei Wan, Colin Bishop, Herbert L. Bonkovsky   +4 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies

British Journal of Haematology, EarlyView.
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi, Nandakumar Natarajan, Kathryn E. Dickerson, Richard A. Voit   +3 more
wiley   +1 more source

Variegate porphyria onset as neurovisceral manifestation and unusual sensory impairment distribution. Case report

Brain Disorders
Background: Acute hepatic porphyrias are heme metabolism disorders presenting with a broad clinical spectrum, including neurovisceral manifestations. Peripheral neuropathy is one of the most frequent complications in porphyrias and can correspond about ...
Lucas Grobério Moulim de Moraes, Caroline Colnago Demoner, Amanda Ambrosini Cipriano, Giselle Alves de Oliveira, Raphael de Paula Doyle Maia, Paula Zago Melo Dias, Mariana Lacerda Reis Grenfell, Renann Nunes Pirola, Marcelo Ramos Muniz   +8 more
doaj   +1 more source

Update on Menopause Hormone Therapy; Current Indications and Unanswered Questions

Clinical Endocrinology, EarlyView.
ABSTRACT Objective To provide clinicians involved in managing menopause with a summary of current evidence surrounding menopause hormone therapy (MHT). Design The authors evaluate and synthesize existing pooled evidence relating to MHT's clinical indications, efficacy, and safety and explore the limitations of existing data. Patients The review focuses
Annice Mukherjee, Susan R. Davis
wiley   +1 more source

Tolerability of hormonal treatments in acute hepatic porphyria patients

Internal Medicine Journal, EarlyView.
Abstract Background Acute hepatic porphyria (AHP) flares have been associated with female hormones and the use of hormonal treatments. Women with AHP are traditionally advised to avoid exogenous oestrogen and progesterone, limiting options for contraception and management of menorrhagia, dysmenorrhoea and menopausal symptoms.
Andjela Arandjelovic, Charlotte Ross, Gayle Ross   +2 more
wiley   +1 more source

Nucleotide Metabolism in Health and Disease

MedComm, Volume 7, Issue 8, August 2026.
Nucleotide metabolism, including de novo synthesis, salvage pathways, and catabolism, when dysregulated contributes to cancer, immune disorders, metabolic and urological diseases, and radiation injury. Metabolites such as adenosine, cGAMP, NAD, and cAMP and enzymes like RNR are promising therapeutic targets and biomarkers.
Xiaoying Zhao, Yiyu Zeng, Yike Xu, Shu Rao, Mouna Khouchani, Hassna Soummane, Jingyi Li, Rui Liu   +7 more
wiley   +1 more source