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.
Can you name them?Click for Answer
Which of the following types of acute porphyria are inherited in an autosomal dominant manner?
Acute intermittent porphyria (AIP)
Hereditary coproporphyria (HCP)
Variegate porphyria (VP)
ALA-dehydratase deficient porphyria (ADP)
True or false: Many individuals who inherit AIP, HCP and VP never have clinical manifestations.
AIP, HCP and VP have low clinical penetrance, pointing to the importance of environmental factors and/or additional genetic alterations in modulating clinical phenotype.
Of the acute porphyrias, which may also present with skin lesions?Click for Answer
Prev1 / 0