Introduction
Jorge Frank Porphyria 49
Key features
The porphyrias result from dysfunction of enzymes involved in heme biosynthesis
The different types can be classified into either acute versus non-acute or cutaneous versus non-cutaneous forms
Cutaneous symptoms exclusively involve sun-exposed areas of the body
Life-threatening neurologic attacks can occur in the acute porphyrias
Diagnosis of specific types of porphyria may at times be difficult because clinical symptoms are often nonspecific and biochemical findings can overlap
The genetic bases of the porphyrias have been well characterized, facilitating accurate molecular diagnosis and genetic counseling