Researchers' Proposals

Acute porphyrias - biochemical and genetic diagnosis

My research subject is the genetic screening of patients with acute porphyria. Acute porphyrias are caused by mutations of genes coding for certain enzymes in the heme biosynthetic pathway. Clinical symptoms could be life threatening. Diagnosis of patients with symptoms is easily made by biochemical methods, but asymptomatic patients usually have normal levels of precursors. There is also a significant overlap zone in the activity of the affected enzyme. Genetic analysis is the most reliable diagnostic method, and early diagnosis helps to prevent the serious acute attacks.