5 articles
Harderoporphyria
Harderoporphyria (HARPO), a rare autosomal recessive erythropoietic variant of hereditary coproporphyria caused by biallelic CPOX mutations such as K404E, presents neonatally with hemolytic anemia, jaundice, and massive fecal harderoporphyrin excretion.
Hereditary coproporphyria
Hereditary coproporphyria (HCP) is a rare autosomal dominant acute hepatic porphyria caused by CPOX enzyme deficiency, causing neurovisceral attacks, rare skin lesions, low penetrance, and treatment with hemin.
Porphyria due to ALA dehydratase deficiency
Porphyria due to ALA dehydratase deficiency (ALAD porphyria, Doss porphyria, plumboporphyria): ultra-rare autosomal recessive acute hepatic porphyria, fewer than a dozen cases, elevated urinary ALA with normal PBG, ALAD gene 9q32.
Variegate porphyria
Variegate porphyria (porphyria variegata), a rare autosomal dominant heme biosynthesis disorder from PPOX mutations, causes both blistering photosensitivity and acute neurovisceral attacks; highly prevalent in South Africa via the R59W founder mutation.
X-linked erythropoietic protoporphyria
X-linked erythropoietic protoporphyria (XLP, XLDPP, OMIM 300752), an X-linked dominant protoporphyria from ALAS2 gain-of-function variants causing protoporphyrin IX accumulation and painful childhood photosensitivity; metal-free PPIX 50-85%, FECH normal.