Results 11 to 20 of about 31,642 (216)

Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic <i>HMBS</i> Variants: A Case Report. [PDF]

JIMD Rep
ABSTRACT Leukodystrophy due to biallelic HMBS variants is a rare condition distinct from acute intermittent porphyria (AIP). It is characterised by progressive leukoencephalopathy rather than acute attacks of neurovisceral symptoms. We report the ongoing clinical progression of a patient with leukodystrophy due to homozygous variants in HMBS [c.251C>A,
Clark J, Smith J, Leong Y, Cronin V, Winship I, Ross G, Fazio T.   +6 more
europepmc   +2 more sources

New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model. [PDF]

J Intern Med
Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Di Pierro E, Solares I, Jericó D, Castelbón FJ, Solera JT, Riera-Mestre A, Barreda-Sánchez M, Poci C, Nicolli A, Urigo F, Sampedro A, de Salamanca RE, Marcacci M, Ávila MA, Harper P, Fanlo-Maresma MG, Guillén-Navarro E, Graziadei G, Wenzel A, Beck BB, Ventura P, Morales-Conejo M, Fontanellas A.   +22 more
europepmc   +2 more sources

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

Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review [PDF]

Orphanet Journal of Rare Diseases
Background Genetic porphyrias, namely in their homozygous form, may cause a neurodevelopmental disorder which may even be the clinically dominant feature. But few cases have been described so far.
Nadja Kaiser, Janine Magg, Thomas Nägele, Nicole Wolf, Ingeborg Krägeloh-Mann   +4 more
doaj   +2 more sources

Efficacy and safety of givosiran for acute hepatic porphyria: 24‐month interim analysis of the randomized phase 3 ENVISION study

Liver international (Print), 2021
Upregulation of hepatic delta‐aminolevulinic acid synthase 1 with accumulation of potentially toxic heme precursors delta‐aminolevulinic acid and porphobilinogen is fundamental to the pathogenesis of acute hepatic porphyria.
P. Ventura, H. Bonkovsky, L. Gouya, Paula Aguilera‐Peiró, D. Montgomery Bissell, P. Stein, M. Balwani, D. K. E. Anderson, C. Parker, D. Kuter, S. Monroy, Jeeyoung Oh, B. Ritchie, John J Ko, Zhaowei Hua, M. Sweetser, Eliane Sardh   +16 more
semanticscholar   +1 more source

Quantifying the impact of symptomatic acute hepatic porphyria on well‐being via patient‐reported outcomes: Results from the Porphyria Worldwide Patient Experience Research (POWER) study

JIMD Reports, 2023
Acute hepatic porphyria (AHP) is a group of rare genetic diseases of heme biosynthesis resulting in severe neurovisceral attacks and chronic complications that negatively impact patients' well‐being.
Amy Dickey, Kristen Wheeden, Desiree Lyon, Sue Burrell, Sean Hegarty, Rocco Falchetto, Edrin R. Williams, Jasmin Barman‐Aksözen, Marc DeCongelio, Alison Bulkley, Joana E. Matos, Tarek Mnif, Jordanna Mora, John J. Ko, Stephen Meninger, Stephen Lombardelli, Danielle Nance   +16 more
doaj   +1 more source

Risk of Hepatocellular Carcinoma in Patients with Porphyria: A Systematic Review

Cancers, 2022
Simple Summary Porphyria is a metabolic condition which leads to reduced heme production. While it involves multiple organs systems, porphyria affecting the liver can lead to elevations in hepatic enzymes, progressive fibrosis, cirrhosis and eventually ...
D. Ramai, S. Deliwala, S. Chandan, J. Lester, Jameel Singh, J. Samanta, S. di Nunzio, Fabio Perversi, Francesca Cappellini, Aashni Shah, M. Ghidini, R. Sacco, A. Facciorusso, L. Giacomelli   +13 more
semanticscholar   +1 more source

Detect Acute Porphyrias in Emergency Departments (DePorED) – a pilot study

Orphanet Journal of Rare Diseases, 2023
Background Acute porphyrias (APs) are a group of rare metabolic diseases related to a disturbed heme biosynthesis. Symptoms may first occur as life threatening attacks, comprising abdominal pain and/or variable neuro-psychiatric symptoms, thus leading to
Eva Diehl-Wiesenecker, Sabine Blaschke, Nils Wohmann, Ilja Kubisch, Thomas Stauch, Mona Mainert, Franziska Helm, Sabine von Wegerer, David Pittrow, Jorge Frank, Ulrich Stölzel, Rajan Somasundaram   +11 more
doaj   +1 more source

Laboratory Diagnosis of Porphyria

Diagnostics, 2021
Porphyrias are a group of diseases that are clinically and genetically heterogeneous and originate mostly from inherited dysfunctions of specific enzymes involved in heme biosynthesis. Such dysfunctions result in the excessive production and excretion of
E. Di Pierro, M. De Canio, R. Mercadante, M. Savino, F. Granata, D. Tavazzi, A. Nicolli, A. Trevisan, S. Marchini, S. Fustinoni   +9 more
semanticscholar   +1 more source

Health-related quality of life in porphyria cutanea tarda: a cross-sectional registry based study

Health and Quality of Life Outcomes, 2020
Background Porphyria cutanea tarda (PCT) is a rare, photosensitive disease characterized by skin fragility and blistering on sun-exposed areas. There is little previous research on how this condition affects health-related quality of life (HRQoL) and to ...
Janice Andersen, Janne Thomsen, Åshild Rostad Enes, Sverre Sandberg, Aasne K. Aarsand   +4 more
doaj   +1 more source