Lindsey Shapiro, PhD,  science writer—

A new mutation in the UROS gene, combined with another previously reported mutation, was identified as the cause of congenital erythropoietic porphyria (CEP) in an elderly Japanese woman, according to a recent case report. Researchers found the new mutation with genetic testing, following a porphyrin test that showed elevated levels in…

The number of deaths or acute attacks in women with acute hepatic porphyria (AHP) that required hospitalization decreased significantly since 1980, although more than half of them still reported some acute symptoms, according to a natural history study in Finland. The life expectancy for women with AHP…