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[An overview of porphyrias].
Dermatologie (Heidelb)
July 2024
Klinik für Dermatologie, Venerologie und Allergologie, Universitätsmedizin Göttingen, Robert Koch Str. 40, 37075, Göttingen, Deutschland.
Article Synopsis
- Porphyrias are genetic metabolic disorders that disrupt enzymes involved in producing porphyrin and heme, leading to toxic byproducts like porphyrins.
- Symptoms vary widely, including skin issues in sunlight and dangerous neurovisceral attacks.
- Diagnosis involves biochemical tests of urine, blood, and stool, and treatment is complex, often needing collaboration among various medical specialists.
Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria.
Int J Mol Sci
December 2022
Hepatology Program, CIMA Universidad de Navarra, 31008 Pamplona, Spain.
Porphobilinogen deaminase (PBGD) haploinsufficiency (acute intermittent porphyria, AIP) is characterized by neurovisceral attacks associated with high production, accumulation and urinary excretion of heme precursors, δ-aminolevulinic acid (ALA) and porphobilinogen (PBG). The estimated clinical penetrance for AIP is extremely low (<1%), therefore it is likely that other factors may play an important role in the predisposition to developing attacks. Fasting is a known triggering factor.
View Article and Find Full Text PDFGenetic susceptibility of δ-ALAD associated with lead (Pb) intoxication: sources of exposure, preventive measures, and treatment interventions.
Environ Sci Pollut Res Int
September 2021
Department of Pharmaceutical Chemistry, Government College University, Faisalabad, Pakistan.
Delta-aminolevulinic acid dehydratase (δ-ALAD) is involved in the synthesis of haem and exhibits a polymorphic nature. δ-ALAD polymorphism produces two alleles, namely δ-ALAD-1 and δ-ALAD-2, which in turn produce three different phenotypes, namely δ-ALAD1-1, δ-ALAD1-2, and δ-ALAD2-2. δ-ALAD gene is more susceptible to lead (Pb) toxicity than any other genes.
View Article and Find Full Text PDFA hypoxia responsive nanoassembly for tumor specific oxygenation and enhanced sonodynamic therapy.
Biomaterials
August 2021
State Key Laboratory of Quality Research in Chinese Medicine, Institute of Chinese Medical Science, University of Macau, Avenida da Universidade, Taipa, Macau, China. Electronic address:
The hypoxic tumor microenvironment (TME) and non-specific distribution of sonosensitizers are two major obstacles that limit practical applications of sonodynamic therapy (SDT) in combating tumors. Here we report a hypoxia-responsive nanovesicle (hMVs) as delivery vehicles of a sonosensitizer to enhance the efficacy of SDT via specific payload release and local oxygenation in the tumor. The nanovesicles are composed of densely packed manganese ferrite nanoparticles (MFNs) embedded in hypoxia-responsive amphiphilic polymer membranes.
View Article and Find Full Text PDFActivated Carbon Fabric Mask Reduces Lead Absorption and Improves the Heme Biosynthesis and Hematological Parameters of Battery Manufacturing Workers.
Indian J Clin Biochem
January 2021
Department of Biochemistry, Krishna Institute of Medical Sciences, Karad, Maharashtra 415539 India.
Activated carbon fabrics (ACF) mask prevents the absorption of lead and reduce its adverse effects of human health. Aim of this study to know the blood lead level and its effects on heme biosynthesis and hematological parameters after using 2 months activated carbon fabric mask of battery manufacturing workers (BMW). Blood lead level, heme biosynthesis and hematological parameters were measured by using standard method.
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