Variegate porphyria
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Variegate porphyria, also known by several other names, is an autosomal dominant porphyria[3] that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin. The disorder results from low levels of the enzyme responsible for the seventh step in heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood.
Quick Facts Other names, Specialty ...
Variegate porphyria | |
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Other names | Mixed hepatic porphyria,[1] Mixed porphyria,[1] South African genetic porphyria,[1]:ā525ā and South African porphyria.[2] |
Protoporphyrinogen IX | |
Specialty | Endocrinology |
Symptoms | skin problems, Enzyme difficiency. |
Causes | genetic mutations. |
Treatment | liver transplants. |
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