Publications by authors named "J To-Figueras"
Article Synopsis
- Porphyrias are rare health problems caused by mistakes in the body's metabolism, leading to different symptoms and complications, making them important for doctors in various fields to consider.
- Diagnosing porphyria involves special tests to check for specific chemicals in the urine, blood, and stool, as just looking at symptoms isn't enough.
- Genetic testing can help understand porphyria better, especially for family members of those affected, but it's important to confirm certain chemical markers first before doing genetic tests.
Article Synopsis
- Congenital erythropoietic porphyria (CEP) is a rare genetic disorder caused by reduced function of the UROS enzyme, leading to the accumulation of harmful porphyrins.
- The buildup of these porphyrins mainly affects blood and skin, causing symptoms that can range from severe fetal conditions to mild skin issues in adults.
- The text discusses the biochemical and clinical aspects of CEP, alongside current and potential new treatments aimed at improving UROS enzyme activity.
Defects in hydroxymethylbilane synthase (HMBS) can cause acute intermittent porphyria (AIP), an acute neurological disease. Although sequencing-based diagnosis can be definitive, ∼⅓ of clinical HMBS variants are missense variants, and most clinically reported HMBS missense variants are designated as "variants of uncertain significance" (VUSs). Using saturation mutagenesis, en masse selection, and sequencing, we applied a multiplexed validated assay to both the erythroid-specific and ubiquitous isoforms of HMBS, obtaining confident functional impact scores for >84% of all possible amino acid substitutions.
View Article and Find Full Text PDF