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Summary
ERYTHROPOIETIC PROTOPORHYRIA
PROTOPORHYRIA, ERYTHROPOIETIC PORPHYRIA, PROTOPORHYRIA
177000
OMIM = Online Medalian Inheritance of Men
79278
18q21.31

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • beta-carotene
  • cholestyramine
rare (1:75.000-1:200.000)
autosomal recessive
painful photosensitivity upon first exposure to sunlight
symptoms
anemia
dermatitis
edema
gallstones, cholelithiasis
liver failure
onset, childhood
photophobia or photosensitive defect in light-exposed area
laboratory finding
Porphyrins increasedplasma
Porphyrins increasedfecal
Porphyrins increasederythrocytes
Ferritin normal-decreasedserumall
Iron normal-decreasedserumall
Literature
Duran MBaumgartner ER, Sourmala TM, Bruinvis L, Dorland L, Smeitink JAM, Poll-The BTCerebrospinal fluid organic acids in Biotinidase deficiencyJ Inherit Metab Dis160513-5161993
Yang N,et al.Analysis of gene mutations in Chinese patients with maple syrup urine diseaseMol Genet Metab1064412-4182012
Packman W,et al.Young Adults with MSUD and Their Transition to Adulthood: Psychosocial IssuesJ Genet Couns215692-7032012
Lee WTDisorders of amino acid metabolism associated with epilepsyBrain Dev339745-7522011
Barth PGHoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AH, Duran M, Valk J, Schutgens RBH, Trefz FK, Reimann G, HartunL-2-Hydroxyglutaric acid Acidemia: A Novel Inherited Neurometabolic DiseaseAnnals of Neurology32166-711992