Abstract
Clinically overt hepatic porphyria is uncommon in children. The autosomal dominant acute hepatic porphyrias, acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP), are rarely present before puberty. Identification of asymptomatic children who have inherited these disorders is an important aspect of the management of the disease in their families and requires either enzymatic or DNA methods. Homozygous variants of AIP, VP and HCP usually present in early childhood and have phenotypes of variable severity. Mutational analysis is currently elucidating the relationship between these disorders and their autosomal dominant counterparts. 5-Aminolaevulinate dehydratase deficiency porphyria is a rare, autosomal recessive acute porphyria that may present at any age. Two cutaneous hepatic porphyrias are seen in children. Porphyria cutanea tarda (PCT), although mainly an adult disease, has been reported in young children with the autosomal dominant (type II) form of the disorder. Hepatoerythropoietic porphyria usually develops before the age of 2 years; patients are homo- or heteroallelic for uroporphyrinogen decarboxylase mutations, at least one of which is known to cause type II PCT.
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Elder, G.H. Hepatic porphyrias in children. J Inherit Metab Dis 20, 237–246 (1997). https://doi.org/10.1023/A:1005313024076
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DOI: https://doi.org/10.1023/A:1005313024076