AI Article Synopsis
- Recent advances in diagnosing acute intermittent porphyria include the use of enzymatic methods to assess preporphyrin and porphyrin levels in urine.
- A significant indicator of the disease is the reduced activity of uroporphyrinogen-1-synthetase found in affected individuals and healthy gene carriers.
- Due to the highly variable clinical symptoms and lab results in acute intermittent porphyria, ongoing monitoring of diagnostics and treatment is essential.
Article Abstract
Apart from the determination of preporphyrin and porphyrin in the urine recently enzymatic methods entered the diagnostics of the acute intermittent porphyria. Of particular importance is the decrease of activity of the uroporphyrogen-1-synthetase in the manifest disease as well as in the clinically healthy carriers of genes. Since the clinical picture as well as the values of chemical laboratory examinations in the acute intermittent porphyria are extraordinarily variable, a long-term control of diagnostics and therapy is necessary.
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