Table 1 Types of acute hepatic porphyrias
Type | Allele and inheritance pattern [8] | Sex of symptomatic patients [11] | Estimated prevalence of symptomatic patients (per million) [12] | Important biochemical features [25] | |
|---|---|---|---|---|---|
AIP | HMBSa autosomal dominant | Predominantly female | 5.9 | Acute attacks Chronic | ALA and PBG usually elevated at all timesb |
VP | PPOX autosomal dominant | Predominantly female | 3.2 | Acute attacks Chronic Cutaneous | ALA and PBG usually elevated only during attacks |
HCP | CPOX autosomal dominant | Predominantly female | 0.8 | Acute attacks Chronic Cutaneous | ALA and PBG usually elevated only during attacks |
ADP | ALAD autosomal recessive | All recorded symptomatic patients have been male | Ultra-rare (<Â 10 documented cases) | Acute attacks Chronic | ALA usually elevated at all times, PBG not usually elevated |