Category Archives: The porphyrias

Rare types of porphyrias

Porphyrias information 5-Aminolevulinic acid (ALA) dehydratase defect porphyria is a very rare type of porphyria that is caused by severe deficiency of 5-aminolevulinic acid dehydratase, the second enzyme of the heme biosynthetic pathway. It is inherited in autosomal recessive fashion,

Erythropoietic protoporphyria

Erythropoietic protoporphyria is manifested as acute photoreactivity of the skin in childhood. Typical symptoms are stinging pain or itching with subsequent swelling and erythema of the exposed skin within minutes to hours after sun exposure. Hepatobiliary complications may be associated

Porphyria cutanea tarda

Porphyria cutanea porphyria is the most common type of porphyria in the United States and Europe. Onset is usually during the fourth or fifth decade of life, and the disorder is manifested mainly as cutaneous symptoms and hepatopathy. Characteristic skin

Symptomatic Therapy

Symptomatic Therapy Patients with acute attacks usually have symptoms that may necessitate medication or other therapies. Pain is typically severe, often requiring opiate analgesics for control; morphine, meperidine, or other opiates in normal doses may be used. For insomnia, chloral

Treatment of the Acute Attack

Treatment of the Acute Attack Treatment of acute porphyric attacks includes three different approaches: elimination of precipitating factors, specific therapy, and symptomatic treatment. Elimination of Precipitating Factors Acute porphyric attacks are often precipitated by factors such as certain drugs, excessive

The porphyrias

Porphyrias are a group of diseases that result from defective enzymes of heme biosynthesis. The seven different porphyrias correspond to an abnormality of a specific enzyme of the heme biosynthesis pathway. The genes coding for the enzymes are known in