A new mutation in the HMBS gene was found to be the cause of acute intermittent porphyria (AIP) in a Chinese woman who experienced symptom flares related to an unexpected pregnancy, a case study reported. “This case contributes to the existing knowledge on AIP and its causative genetic mutations,”…
A wearable device capable of measuring light exposure could help to predict symptoms of erythropoietic protoporphyria (EPP), and may be useful as a measure to include in clinical trials, according to a recent study. The study, “Prospective observational pilot study of quantitative light dosimetry in erythropoietic…
For people with cyclic vomiting syndrome (CVS) — a condition whose symptoms significantly overlap those of porphyria — a long disease duration, taking very hot showers/baths to alleviate symptoms, and having co-existing conditions, all are clinical features to prompt genetic testing for acute porphyria, according to a new…
The case of a woman with variegate porphyria (VP) diagnosed following an acute attack that occurred after weight loss surgery was described in a recent report. Study authors recommend that people planning weight loss surgery first have a screening for porphyria, since this type of surgery may…
Porphyria cutanea tarda (PCT), the most common form of porphyria, is much less common among people with kidney disease today than it has been in the past, a recent study suggests. “This study shows, for the first time, that in modern hemodialysis era, possibly due to improved porphyrins’ metabolism…
For the first time in Thailand, home to an estimated 350 undiagnosed acute intermittent porphyria (AIP) patients, molecular testing was used to confirm an AIP attack in a 14-year-old girl, researchers report. The teen had experienced bouts of abdominal pain and neuropsychiatric symptoms that are a hallmark of…
Heme, a molecule crucial for several biological processes, is transported from sites of production or storage for use in cells with the help of a protein called TANGO2, a team of researchers have discovered. Because TANGO2 ensures heme is available for use — and that it does not accumulate…
Many people with acute hepatic porphyria (AHP) in Japan already have complications related to their disease at the time they’re diagnosed and about one in 10 take medications that could make their attacks worse, a study has found. Researchers observed that while a little more than half the patients received…
A stem cell transplant effectively eased the signs and symptoms of congenital erythropoietic porphyria (CEP) in a 3-month-old baby girl with severe disease, a case study reported. The results underscore the importance of early diagnosis and treatment to avoid harmful and permanent CEP effects. The case study, “Very…
A report described a case of variegate porphyria, a type of acute porphyria, in a 9-year-old girl who had several underlying medical conditions, including a severe form of epilepsy. The researchers noted that while variegate porphyria is not frequently seen in children, when it is it’s “associated with more…
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