Key Features

  • The porphyrias result from a dysfunction of specific enzymes involved in heme biosynthesis.

  • At least eight types are currently known. They can be classified into acute and nonacute or cutaneous and noncutaneous forms.

  • Cutaneous symptoms develop only on photo-exposed areas of the body.

  • Life-threatening acute neurological attacks can occur.

  • Diagnosis may be delayed due to unspecific clinical symptoms and overlapping biochemical findings.

  • All genes encoding the different types of por-phyria are known, enabling accurate molecular diagnosis and genetic counseling.


Heme Biosynthesis Porphyria Cutanea Tarda Acute Intermittent Porphyria Acute Intermittent Porphyria Cutaneous Symptom 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2010

Authors and Affiliations

  1. 1.Maastricht University, Center for Molecular Dermatology, University Medical Center Maastricht, P. Debyelaan 25MaastrichtThe Netherlands

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