Researchers described the case of a Japanese patient with familial porphyria cutanea tarda (PCT) carrying a previously unreported mutation in the UROD gene. The case report, “The first Japanese case of familial porphyria cutanea tarda diagnosed by a UROD mutation,” appeared in the Journal…
Differential responses to blood vessel contraction and widening may underlie hypertension in patients experiencing acute intermittent porphyria (AIP) attacks, according to a mouse study. In addition, the differences found between male and female mice in the study may help explain the greater incidence of AIP attacks in women. The study,…
The antiviral combo therapy of ribavirin and sofosbuvir successfully cleared a patient’s hepatitis C virus and led to remission of his porphyria cutanea tarda (PCT), a case study reports. The study, “Improvement of porphyria cutanea tarda following treatment of hepatitis C virus by direct-acting antivirals: A case…
High energy intake and insulin levels, as well as increased sugar and candy consumption, are associated with lower disease activity in acute intermittent porphyria, a small population-based study suggests. The study, “Lifestyle factors including diet and biochemical biomarkers in acute intermittent porphyria: Results from a case-control study…
The ClpX protein recently has been studied for its role in causing erythropoietic protoporphyria (EPP). In a review study, researchers explored this connection and recommended further genetic studies. The study, “The role of ClpX in erythropoietic protoporphyria,” was published in the journal Hematology, Transfusion and Cell Therapy.
A genetic study found 19 new mutations in the…
Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…
Nonconvulsive status epilepticus, a condition characterized by confusion, inability to speak, and diminished awareness, has been reported for the first time in a patient with variegate porphyria, according to a case study. The study, “Nonconvulsive status epilepticus secondary to acute Porphyria crisis,” was published in the journal,…
Genetic testing is vital to confirming the diagnosis of acute hepatic porphyria (AHP) in symptomatic patients, and identifying family members who carry mutations but have no symptoms, a study by Mount Sinai researchers — that found family mutations in 50 percent of the asymptomatic people tested — reports. The study, based on…
Canadian patients who have recurrent attacks of acute intermittent porphyria (AIP) can now be treated with Recordati Rare Diseases Canada’ injectable hemin formulation, Panhematin. Health Canada has approved the use of Panhematin to reduce the production and buildup of toxic compounds in the body induced by…
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