Results 11 to 20 of about 7,124 (172)

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

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Case Reports in Genetics, 2020
Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates.
G. N. Cerbino, L. Abou Assali, L. S. Varela, L. Tomassi, A. Batlle, V. E. Parera, M. V. Rossetti   +6 more
doaj   +1 more source

The acute hepatic porphyrias [PDF]

Translational Gastroenterology and Hepatology, 2021
The acute hepatic porphyrias (AHP) are a group of four inherited diseases of heme biosynthesis. They present with similar severe, episodic, acute neurovisceral symptoms due to abnormally elevated levels of porphyrin precursors delta-aminolevulinic acid (ALA).
openaire   +2 more sources

Acute Intermittent Porphyria: Flaccid Quadriplegia and Encephalopathy due to Posterior Reversible Encephalopathy Syndrome (PRES) [PDF]

Liaquat National Journal of Primary Care
A deficiency of the enzyme HMB Hydroxymethylbilane synthase function, also known as porphobilinogen deaminase, leads to the emergence of acute intermittent porphyria (AIP). AIP is an uncommon form of hepatic porphyria inherited in an autosomal dominant
Saba Zaidi, Ayesha Abdul Samad, Ayesha Jaka   +2 more
doaj   +1 more source

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

First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria

Life, 2023
Acute porphyrias are a group of monogenetic inborn errors of heme biosynthesis, characterized by acute and potentially life-threatening neurovisceral attacks upon exposure to certain triggering factors.
Adrian Belosevic, Anna-Elisabeth Minder, Morgan Gueuning, Franziska van Breemen, Gian Andri Thun, Maja P. Mattle-Greminger, Stefan Meyer, Alessandra Baumer, Elisabeth I. Minder, Xiaoye Schneider-Yin, Jasmin Barman-Aksözen   +10 more
doaj   +1 more source

19-year-old female with abdominal pain [PDF]

Romanian Journal of Neurology, 2013
Porphyria is a group of at least 8 diseases that differ greatly between them. Common feature of these diseases is the accumulation in the body of porphyrins or porphyrin precursors, due to defects of specific enzymes in the biosynthesis of heme.
Ioan Buraga, Adrian-Florin Dobrescu
doaj   +1 more source

Acute Intermittent Porphyria in Childhood Presenting with Hypertensive Emergency and Posterior Reversible Encephalopathy Syndrome

Journal of Pediatric Critical Care, 2016
Acute intermittent porphyria is an inherited metabolic disease due to deficiency of the enzyme porphobilinogen deaminase that can affect the autonomic, peripheral and central nervous system.
Rishab Bharadwaj, Pallavi P Dagli, Aasheeta S Shah   +2 more
doaj   +1 more source

SUBACUTE CUTANEOUS LUPUS ERYTHEMATOSUS WITH PSEUDO-PORPHYRIA AND VITILIGO

Journal of Nepal Medical Association, 2003
Sub acute Cutaneous Lupus Erythematosus (SCLE) is a distinct subset of Lupus Erythematosus. It can present as non scarring psoriasiform or annular polycyclic lesions.
H Sripathi, M Dahal, A Basu
doaj   +1 more source

Psychiatric Symptoms in Acute Intermittent Porphyria - Case Report and Course of Treatment Using Placebo

Journal of Education, Health and Sport
Introduction: Acute intermittent porphyria is a disease inherited in an autosomal dominant manner, occurring with a frequency of 1:75,000 people.
Waldemar Kosiba, Dominika Prystacka-Szar, Jakub Siemko, Wojciech Kupczak   +3 more
doaj   +1 more source