Knowledge Check

Acute porphyrias refer to a group of 4 inherited metabolic diseases, each resulting from a deficiency in a different enzyme in the heme biosynthesis pathway.

Which of the following types of acute porphyria are inherited in an autosomal dominant manner?

a
Acute intermittent porphyria (AIP)
b
Hereditary coproporphyria (HCP)
c
Variegate porphyria (VP)
d
ALA-dehydratase deficient porphyria (ADP)

True or false: Many individuals who inherit AIP, HCP and VP never have clinical manifestations.

a
True
AIP, HCP and VP have low clinical penetrance, pointing to the importance of environmental factors and/or additional genetic alterations in modulating clinical phenotype.
b
False