Results 11 to 20 of about 2,271 (165)

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

The Porphyrias

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2022
SummaryThe porphyrias are clinically variable and genetically heterogeneous, predominantly hereditary metabolic diseases, which are caused by a dysfunction of specific enzymes in heme biosynthesis. Here, we provide an overview of the etiopathogenesis, clinic, differential diagnosis, laboratory diagnostics and therapy of these complex metabolic ...
Muschalek, Wiebke, Hermasch, Matthias A., Poblete‐ Gutiérrez, Pamela, Frank, Jorge   +3 more
openaire   +3 more sources

Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias

Metabolites, 2014
Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias.
Siddesh Besur, Wehong Hou, Paul Schmeltzer, Herbert L. Bonkovsky   +3 more
doaj   +1 more source

Therapy Follows Diagnosis: Old and New Approaches for the Treatment of Acute Porphyrias, What We Know and What We Should Know

Diagnostics, 2022
Heme, iron protoporphyrin IX, is one of life’s most central molecules. Hence, availability of the enzymatic machinery necessary for its synthesis is crucial for every cell.
Petro E. Petrides
doaj   +1 more source

The diagnosis and management of porphyria cutanea tarda (PCT)

South African Family Practice, 2009
The porphyrias are a group of disorders in which excessive quantities of porphyrins or their precursors are produced. They are due to abnormalities in the control of the porphyrin-haem metabolic pathway.
Mojakgomo H. Motswaledi
doaj   +1 more source

Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria

Biomolecules, 2023
Acute intermittent porphyria (AIP) is characterized by acute neurovisceral attacks that are precipitated by the induction of hepatic 5-aminolevulinic acid synthase 1 (ALAS1).
Makiko Yasuda, Sangmi Lee, Lin Gan, Hector A. Bergonia, Robert J. Desnick, John D. Phillips   +5 more
doaj   +1 more source

Fotossensibilidade amplificada? Relato de porfiria cutânea tarda associada a lúpus eritematoso sistêmico Increased photosensitivity? Case report of porphyria cutanea tarda associated with systemic lupus erythematosus

Revista Brasileira de Reumatologia, 2012
A associação de porfiria cutânea tarda (PCT) e lúpus eritematoso sistêmico (LES) é rara. O LES, de fisiopatologia complexa e manifestações clínicas pleomórficas, assemelha-se à PCT pela fotossensibilidade.
Scheila Fritsch, Adma Silva de Lima Wojcik, Lilian Schade, Milton Marcio Machota Junior, Fabiane Mulinari Brenner, Eduardo dos Santos Paiva   +5 more
doaj   +1 more source

Porphyrias in the Age of Targeted Therapies

Diagnostics, 2021
The porphyrias are a group of eight rare genetic disorders, each caused by the deficiency of one of the enzymes in the heme biosynthetic pathway, resulting in the excess accumulation of heme precursors and porphyrins. Depending on the tissue site as well
Angelika L. Erwin, Manisha Balwani
doaj   +1 more source

High penetrance, recurrent attacks and thrombus formation in a family with hereditary coproporphyria

JIMD Reports, 2022
Hereditary coproporphyria (HCP) is the rarest of the autosomal dominant acute porphyrias with an estimated incidence of 0.02 per 10 million per year.
Cindy Towns, Sobana Balakrishnan, Chris Florkowski, Andrew Davies, Elaine Barrington‐Ward   +4 more
doaj   +1 more source

Development and validation of a method for porphyrins quantification using HPLC-UV in urine

Фармакокинетика и Фармакодинамика, 2022
Porphyrias are the group of orphan diseases, related to pathological disruptions of heme biosynthesis. These diseases are hard to diagnose timely and existing methods lack universality.
D. A. Kildyushkin, A. E. Petukhov, E. A. Litvin   +2 more
doaj   +1 more source