Results 71 to 80 of about 1,644 (213)
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 +6 more
wiley +1 more source
Liver Cirrhosis Induced by Porphyria Cutanea Tarda: A Case Report and Review
Gut and Liver, 2010 Porphyria cutanea tarda (PCT) is a metabolic disorder that results in a decrease in uroporphyrinogen decarboxylase activity. It is characterized by photosensitivity, bullae formation, and skin pigmentation. There are four types of PCT: acquired, familial,
doaj +1 more source
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 +7 more
wiley +1 more source
Post- Partum Acute Intermittent Porphyria - A Case Report
The Indian Anaesthetists' Forum, 2010 Porphyrias are inherited disorders, each involving a specific enzyme in heme biosynthetic pathways. Acute intermittent porphyria, one of the hepatic porphyria is the most severe form of the disease, with gastrointestinal and neuropsychiatric ...
Gaurav Tomar +3 more
doaj
Gallbladder Dysfunction Diagnosed by Cholescintigraphy with a Fatty Meal
Gut and Liver, 2010 Porphyria cutanea tarda (PCT) is a metabolic disorder that results in a decrease in uroporphyrinogen decarboxylase activity. It is characterized by photosensitivity, bullae formation, and skin pigmentation. There are four types of PCT: acquired, familial,
doaj +1 more source
Current and innovative emerging therapies for porphyrias with hepatic involvement
, 2019 Porphyrias are rare inherited disorders caused by specific enzyme dysfunctions in the haem synthesis pathway, which result in abnormal accumulation of specific pathway intermediates.
Avila, M.A. (Matías Antonio) +3 more
core
The association between chemical-induced porphyria and hepatic cancer
, 2018 The haem biosynthetic pathway is of fundamental importance for cellular metabolism both for the erythroid and nonerythroid tissues. There are several genetic variants of the pathway in the human population that cause dysfunction of one or other of the ...
John R. Foster (4057870) +1 more
core +3 more sources
Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias [PDF]
, 2019 Background and aimsThe acute porphyrias are characterized by defects in heme synthesis, particularly in the liver. In some affected patients, there occurs a critical deficiency in a regulatory heme pool within hepatocytes that leads to up-regulation of 5-
Bonkovsky, Herbert L +7 more
core +1 more source
CHARACTERIZATION OF THE FUNCTIONAL ROLE OF NEW VARIANTS INVOLVED IN VARIEGATE PORPHYRIA AND HIPSC DERIVED HEPATOCYTE LIKE CELLS TO MODEL HEPATIC PORPHYRIAS [PDF]
, 2018 Porphyrias are a group of inherited metabolic disorders of heme biosynthesis. Each porphyria derives from an alteration in the heme biosynthetic pathway resulting in a specific accumulation of heme precursors.
V. Fiorentino
core +1 more source
Acute hepatic porphyria: when to perform liver transplantation?
Medicina, 2021 Acute hepatic porphyrias (AHPs) are inborn errors of hemebiosynthesis and its most common and severe type is the acute intermittent porphyria (AIP). AIP is an hereditary autosomal dominant disease caused by accumulated porphobilinogen deaminase (PBG) and
Maria Eugênia Carinhani de Cico +4 more
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