Publications by authors named "E I Minder"
Article Synopsis
- The erythropoietic protoporphyrias are three rare genetic disorders that disrupt heme production, causing a buildup of protoporphyrin IX (PPIX) in red blood cells and leading to severe skin pain from light exposure, starting in early childhood.
- Diagnosis involves measuring PPIX levels in the blood, and complications can include liver issues, gallstones, anemia, and vitamin D deficiency.
- Management focuses on avoiding light triggers, addressing complications, and using treatments like afamelanotide to improve quality of life, with careful consideration of iron supplementation depending on the specific disorder.
Article Synopsis
- Acute porphyrias are inherited disorders that disrupt heme production, leading to severe neurovisceral symptoms under certain triggers.
- A Swiss patient diagnosed with acute intermittent porphyria exhibited typical metabolic patterns, but routine genetic tests did not reveal any mutations in the expected gene.
- Advanced sequencing techniques uncovered a de novo mosaic mutation in the patient, suggesting that such mutations may play a role in acute porphyrias when standard tests fail to identify a cause.
Unlabelled: In animal models, melanocyte-stimulating hormones (MSHs) protect the liver from various injuries. Erythropoietic protoporphyria (EPP), a metabolic disorder, leads to the accumulation of protoporphyrin (PPIX). In addition to the most prominent symptom of incapacitating phototoxic skin reactions, 20% of EPP patients exhibit disturbed liver functioning and 4% experience terminal liver failure caused by the hepatobiliary elimination of excess PPIX.
View Article and Find Full Text PDFArticle Synopsis
- Porphyrias are rare genetic disorders caused by mutations that lead to a deficiency in enzymes responsible for heme biosynthesis, resulting in toxic compound accumulation and various symptoms.
- Variegate porphyria, a type of acute hepatic porphyria, is linked to a mutation in the PPOX gene and can be triggered by factors like stress, drugs, or fasting, causing severe neurological issues.
- A case study of a 46-year-old woman who developed severe symptoms after gastric bypass surgery highlights the importance of recognizing porphyria symptoms before surgical interventions to prevent serious complications.