A 23-year-old woman from Honduras was diagnosed to have hepatoerythropoietic porphyria. She had photosensitive skin of early onset, hypertrichosis, and severe scleroderma-like lesions of the hands. Erythrocyte uroporphyrinogen decarboxylase activity was reduced to about 10% of the normal activity.
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Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs.
Semin Liver Dis
May 2024
Department of Experimental Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania.
Article Synopsis
- - Hepatic porphyrias are metabolic disorders where excess porphyrin precursors accumulate in the liver, leading to neurological symptoms and skin sensitivity, with some cases resulting in severe acute neurovisceral attacks.
- - This review focuses on types of acute hepatic porphyrias (like acute intermittent porphyria and hereditary coproporphyria) and those with skin symptoms (like porphyria cutanea tarda), addressing prevalence, symptoms, and treatments.
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[The cutaneous porphyrias].
Ann Dermatol Venereol
February 2019
Service de dermatologie, CHR Metz-Thionville, 1, allée du Château, CS 45001, 57085 Metz cedex 03, France. Electronic address:
The porphyrias are a group of metabolic disorders resulting from an innate abnormality in haem biosynthesis, and the clinical settings of which vary according to the genetic enzyme abnormality in question. These are genetic disorders with autosomal dominant or recessive inheritance of varying penetrance, and whose clinical expression differs according to the preferential location of haem precursors. Different classifications have been proposed according to genetic inheritance, the enzyme anomaly at issue, and clinical expression.
View Article and Find Full Text PDFPorphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
Mol Genet Metab
November 2019
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:
Porphyria Cutanea Tarda (PCT) is a cutaneous porphyria that results from the hepatic inhibition of the heme biosynthetic enzyme uroporphyrinogen decarboxylase (UROD), and can occur either in the absence or presence of an inherited heterozygous UROD mutation (PCT subtypes 1 and 2, respectively). A heterozygous UROD mutation causes half-normal levels of UROD activity systemically, which is a susceptibility factor but is not sufficient alone to cause type 2 PCT. In both Types 1 and 2 PCT, the cutaneous manifestations are precipitated by additional factors that lead to generation of an inhibitor that more profoundly reduces hepatic UROD activity.
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