Dipl.-Biol. Birgit Busse
Porphyrias are caused by enzymatic defects in heme biosynthesis, which result in accumulation and storage of intermediate products in the tissues. Depending on the type of porphyria and exposure to noxious substances, abdominal, neurological and/or cutaneous signs and symptoms occur.
The main symptom is an abdominal colic that is triggered by alcohol, fasting or medication. The frequency of acute intermittent porphyria is 1:10,000 in Western Europe.
The main symptoms affect the skin and are caused by cutaneous accumulation of heme precursors leading to increased light sensitivity. Sun exposure causes skin damage, ranging from mild blistering to severe burns and mutilation.
Since it is often impossible to assign the disease type clearly based on clinical symptoms, a metabolite profile from a urine sample can be used to draw conclusions on the type of porphyria. Genetic diagnostics can confirm the diagnosis and provide information on carrier status.
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