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Summary
PROTOPORPHYRIA, ERYTHROPOIETIC (EPP)
FERROCHELATASE DEFICIENCY
177000
OMIM = Online Medalian Inheritance of Men
79278
18q21.31

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
rare
autosomal recessive
symptoms
anemia
dermatitis
edema
erythema
gallstones, cholelithiasis
liver failure
liver involvement or dysfunction
onset, childhood
onset, infancy
photophobia or photosensitive defect in light-exposed area
laboratory finding
Ferritin normal-decreasedserum
Iron normal-decreasedserum
Triglycerides normal-increasedserum
Coproporphyrin normal-increasedurine
Protoporphyrin increasederythrocytes
Literature
Yamaguchi S,Haba T1, Koike HA Case Report of 2,8-Dihydroxyadenine StoneHinyokika Kiyo617279-2832015