Establishing normal urinary levels of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in healthy individuals helps identify people with acute hepatic porphyria (AHP) with high accuracy, a study shows. These reference values may serve to…
Panhematin (hemin for injection), an approved medication to treat acute intermittent porphyria (AIP), has been deemed an essential medicine by the U.S. Food and Drug Administration (FDA), a designation intended…
The U.S. incidence of the most common form of liver cancer — called hepatocellular carcinoma (HCC) — in people with acute hepatic porphyrias (AHP) warrants cancer screening beginning at age 50, a study suggests. The study,…
People with acute intermittent porphyria (AIP) who were treated with Alnylam Pharmaceuticals’ RNA-based therapy Givlaari (givosiran) had a 74% reduction in porphyria attacks and sustained decreases in toxic products over six…
Two previously unreported mutations were found in a man and his mother with variegate porphyria affecting the skin only, a new case study reports. This finding may help healthcare professionals better understand the connection between specific genetic mutations and disease development…
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