Results 71 to 80 of about 3,950 (159)

Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case Report

JIMD Reports, Volume 67, Issue 1, January 2026.
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,
Jeremy Clark, Joel Smith, Yoke Leong, Virginia Cronin, Ingrid Winship, Gayle Ross, Timothy Fazio   +6 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

Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1—A Belgian Monocentric Experience

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Hereditary tyrosinemia type I (HT‐1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow‐up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood spot (DBS) methods have introduced alternative monitoring options.
Anne‐Sophie Adam, Lionel Marcélis, David Fage, Elise Mathieu, Aurélie Empain, Céline Dufour, Frédéric Cotton, Corinne de Laet   +7 more
wiley   +1 more source

Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study

Orphanet Journal of Rare Diseases
Background Acute hepatic porphyria is a group of multisystem disorders of which acute intermittent porphyria is the most common subtype. Givosiran, a subcutaneously administered RNA interference therapeutic targeting liver ALAS mRNA, is approved for ...
Eliane Sardh, Manisha Balwani, David C. Rees, Karl E. Anderson, Gang Jia, Marianne T. Sweetser, Bruce Wang   +6 more
doaj   +1 more source

New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

Journal of Internal Medicine, Volume 299, Issue 1, Page 126-142, January 2026.
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 ...
Elena Di Pierro, Isabel Solares, Daniel Jericó, Francisco J. Castelbón, Javier Tomás Solera, Antoni Riera‐Mestre, María Barreda‐Sánchez, Carlo Poci, Annamaria Nicolli, Francesco Urigo, Ana Sampedro, Rafael Enríquez de Salamanca, Matteo Marcacci, Matías A. Ávila, Pauline Harper, Marta G. Fanlo‐Maresma, Encarna Guillén‐Navarro, Giovanna Graziadei, Andrea Wenzel, Bodo B. Beck, Paolo Ventura, Montserrat Morales‐Conejo, Antonio Fontanellas   +22 more
wiley   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Acute intermittent porphyria in a resource-limited setting: diagnostic pitfalls and emerging therapeutic perspectives

Journal of Rare Diseases
Background Acute intermittent porphyria (AIP) is a rare metabolic disorder caused by deficiency of hydroxymethylbilane synthase (HMBS), leading to accumulation of neurotoxic heme precursors. Its protean neurovisceral manifestations and the possibility of
Bhupender Arya, Pyrus Bhellum, Rajat Goyal, Avishek Sarangal, Gopal Krishana Bohra   +4 more
doaj   +1 more source

A high urinary urobilinogen/serum total bilirubin ratio indicates acute hepatic porphyria in patients with abdominal pain. [PDF]

Sci Rep, 2023
Song C, Liu Y.
europepmc   +1 more source

[The course of acute hepatic porphyria].

Wiadomosci lekarskie (Warsaw, Poland : 1960), 1999
Acute hepatic porphyrias are the diseases dependent on the congenital metabolic defects of the hem biosynthesis. The diagnosis of porphyria only on the grounds of clinical picture is extremely difficult as it is presented by the variety of symptoms, often imitating other diseases.
W, Kucharski, E, Kostrzewska, W, Zawadzki   +2 more
openaire   +1 more source