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Acute intermittent porphyria: laboratory diagnosis by molecular methods
1Division of Clinical Chemistry, Vancouver Hospital and Health Sciences Center, British Columbia, Canada.
Clinics in Laboratory Medicine
|December 1, 1995
Summary
Acute intermittent porphyria, a neurologic disorder, is linked to porphobilinogen deaminase deficiency. Molecular techniques now enable precise genetic diagnosis and carrier identification for this rare disease.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Acute intermittent porphyria (AIP) is a neurologic disorder resulting from partial deficiency of porphobilinogen (PBG) deaminase.
- This enzyme is crucial in the heme biosynthetic pathway.
Purpose of the Study:
- To highlight the significance of molecular techniques in diagnosing AIP.
- To emphasize the importance of mutation screening for identifying diverse genetic causes of AIP.
Main Methods:
- Isolation and characterization of the PBG deaminase gene.
- Identification of over 60 distinct mutations associated with AIP.
- Development of molecular screening techniques for mutation detection.
Main Results:
- The gene for PBG deaminase has been isolated and characterized.
- Numerous mutations causing AIP have been identified, with most being family-specific.
- Molecular techniques facilitate accurate identification of gene carriers.
Conclusions:
- Molecular diagnostics offer improved accuracy for identifying AIP gene carriers compared to biochemical tests.
- Screening for diverse mutations is essential due to the lack of a common mutation in AIP.
- Genetic characterization enables precise family member testing and carrier exclusion.