Results 41 to 50 of about 789 (146)

A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria

Liver International, Volume 45, Issue 7, July 2025.
ABSTRACT Background and Aims This study aimed to characterise symptoms and assess the prevalence of elevated urine porphyrin precursors in first‐degree relatives of acute hepatic porphyria (AHP) patients who have never experienced acute attacks and had no previous AHP genetic or biochemical testing.
Mohsen Merati, Nanditha Jayakumar, Yuvraaj Kapoor, Hetanshi Naik, Manisha Balwani, Karl E. Anderson, Herbert L. Bonkovsky, Robert J. Desnick, Brendan McGuire, John Phillips, D. Montgomery Bissell, Bruce Wang   +11 more
wiley   +1 more source

Clinical Features and Outcomes of Acute Intermittent Porphyria Presenting With Acute Quadriparesis: A Case Series and Follow‐Up Study

European Journal of Neurology, Volume 32, Issue 6, June 2025.
ABSTRACT Introduction A retrospective case series of acute intermittent porphyria (AIP) presenting with acute quadriparesis is described with a focus on patterns of neuropathy and nerve conduction study findings. Methods Six patients with acute polyneuropathy were diagnosed with AIP on the basis of characteristic clinical findings, urine ...
Reem M. Alhammad, Rema A. Almutawa, Abdulrahman S. Ali, Nuha M. Alkhawajah, Hana M. Albulaihe, Afag M. Osman, Mohammed A. AlSheef, Alaa A. Alsayed, Raashda A. Sulaiman, Khalid J. Alharbi   +9 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

Liver transplantation and primary liver cancer in porphyria

Liver International, Volume 45, Issue 3, March 2025.
Abstract The porphyrias are a heterogeneous group of metabolic disorders that result from defects in heme synthesis. The metabolic defects are present in all cells, but symptoms are mainly cutaneous or related to neuropathy. The porphyrias are highly relevant to hepatologists since patients can present with symptoms and complications that require liver
Mattias Lissing, Bruce Wang, Staffan Wahlin   +2 more
wiley   +1 more source

Practical recommendations for biochemical and genetic diagnosis of the porphyrias

Liver International, Volume 45, Issue 3, March 2025.
Abstract The porphyrias are a group of rare inborn errors of metabolism associated with various clinical presentations and long‐term complications, making them relevant differential diagnoses to consider for many clinical specialities, especially hepatologists, gastroenterologists and dermatologists.
Aasne K. Aarsand, Jordi To‐Figueras, Sharon Whatley, Sverre Sandberg, Caroline Schmitt   +4 more
wiley   +1 more source

Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management

Liver International, Volume 45, Issue 1, January 2025.
Abstract The erythropoietic protoporphyrias consist of three ultra‐rare genetic disorders of the erythroid heme biosynthesis, including erythropoietic protoporphyria (EPP1), X‐linked protoporphyria (XLEPP) and CLPX‐protoporphyria (EPP2), which all lead to the accumulation of protoporphyrin IX (PPIX) in erythrocytes.
Anna‐Elisabeth Minder, Louisa G. Kluijver, Jasmin Barman‐Aksözen, Elisabeth I. Minder, Janneke G. Langendonk   +4 more
wiley   +1 more source

Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

Orphanet Journal of Rare Diseases, 2013
Variegate porphyria (VP) is an autosomal dominantly inherited hepatic porphyria. The genetic defect in the PPOX gene leads to a partial defect of protoporphyrinogen oxidase, the penultimate enzyme of heme biosynthesis.
Barbaro Michela, Kotajärvi Maire, Harper Pauline, Floderus Ylva   +3 more
doaj   +1 more source

Neuralgic amyotrophy presentation of acute intermittent porphyria: A case report

Journal of the Peripheral Nervous System, Volume 29, Issue 4, Page 567-569, December 2024.
Abstract Background and Aims Porphyrias are inherited metabolic disorders caused by mutations in genes encoding enzymes involved in the heme biosynthetic pathway, leading to the accumulation of heme precursors. Acute hepatic porphyrias (AHP), including acute intermittent porphyria (AIP), can present with predominant peripheral neurological ...
Julian Theuriet, Mathieu Gerfaud‐Valentin, Cécile‐Audrey Durel, Laurent Gouya, Antoine Pegat   +4 more
wiley   +1 more source

High disease burden and healthcare resource usage in patients with acute porphyria—A population‐based analysis

Liver International, Volume 44, Issue 10, Page 2639-2650, October 2024.
Abstract Background and Aims Acute porphyria is a chronic recurrent disease with late diagnosis, heterogeneous clinical presentations and potentially devastating complications. The study aimed at providing real‐world evidence on the natural course of acute porphyria, patient characteristics, disease burden, and healthcare utilization before diagnosis ...
Ulrich Stölzel, Bjoern Ambrosius, Sarah Brun, Frank Tacke   +3 more
wiley   +1 more source

Long‐term complications in acute porphyria

Liver International, Volume 44, Issue 9, Page 2197-2207, September 2024.
Abstract New treatment options and low attack‐related mortality have changed the life expectancy of patients with acute porphyria (AP) to that of the general population. Clinicians should therefore be aware of the long‐term complications of AP, which typically include chronic neuropathy and encephalopathy, high blood pressure and porphyria‐associated ...
Elena Pischik, Mattias Lissing, Nicolas Pallet, Raili Kauppinen   +3 more
wiley   +1 more source