Uroporphyrinogen-1-Synthase

Alternate Names

  • Porphobilinogen Deaminase

An inherited deficiency of uroporphyrinogen-1-synthase and other enzymes necessary for the normal formation of porphyrins results in build up in the liver, which leads to AIP (Acute Intermittent Porphyria). Porphyrins and porphobilinogens are enzymes necessary for the normal formation of the heme part of red blood cells. Heme is the blood component that carries oxygen to all tissues of the body for normal function. This disease will often remain quiet for long periods of time, then be triggered by certain medications. Low blood levels of uroporphyrinogen-1-synthase are diagnostic of AIP.

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