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Summary
CONGENITAL ERYTHTOPOIETIC PORPHYRIA (CEP, GUNTHER DISEASE)
PORPHYRIA, CONGENITAL ERYTHTOPOIETIC PORPHYRIA, ERYTHTOPOIETIC
263700
OMIM = Online Medalian Inheritance of Men
79277
10q26.2
  • avoidance of trauma to the skin
  • beta-carotene
  • bone marrow transplantation
  • minimal exposure to the sun
  • transfusions
rare (<200 cases)
autosomal recessive
symptoms
alopecia
anemia
bone fractures
conjunctivitis
erythrodontia
gallstones, cholelithiasis
hemolysis
hyperpigmentation
hypertrichosis
hypopigmentation
onset, infancy
onset, neonatal
photophobia or photosensitive defect in light-exposed area
red colored urine
short stature
skin defects
splenomegaly (large spleen)
thrombopenia, thrombocytopenia
laboratory finding
Porphyrins increasedplasma
Porphyrins increasedurine
Porphyrins increasederythrocytes
Uroporphyrinogen III cosynthase decreased activityerythrocytes
Porphyrins increasedfecal
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
Tau Cet al.Chronic idiopathic hyperphosphatasia: normalization of bone turnover with cyclical intravenous pamidronate therapyBone351210-2162004
Peters Vet al.Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathyNeuropediatrics33127-322002
Ayling JEet al.Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsiesMol Genet Metab703179-1882000
Thony Bet al.Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH)Am J Hum Genet6261302-13111998
Kagalwalla AFKagalwalla YA, Al Ajaji S, Gorka W, Ali MAPhosphorylase b kinase deficiency glycogenosis with cirrhosis of liverJ Pediatr1270602-6051995
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