Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease).
We present data on one patient with an inheritance pattern for two porphyrias. From her mother she inherited the trait of hereditary coproporphyria; from both parents she inherited the trait of congenital erythropoietic porphyria (Günther disease). Enzyme studies confirmed this new type of dual porphyria.
Nordmann
Y
Y
Department of Biochemistry, Hospital Louis Mourier, Faculty of Medicine X. Bichat, University Paris 7, Colombes, France.
Amram
D
D
Deybach
J C
JC
Phung
L N
LN
Lesbros
D
D
D000375:Aging / Q000378:metabolism; D000622:Aminolevulinic Acid / Q000652:urine; D003306:Coproporphyrins / Q000097:blood*; D004912:Erythrocytes / Q000378:metabolism*; D005243:Feces / Q000737:chemistry; D005260:Female; D006461:Hemolysis; D006801:Humans; D007223:Infant; D011164:Porphyrias / Q000150:complications / Q000151:congenital / Q000235:genetics*; D011166:Porphyrins / Q000097:blood / Q000652:urine; D013577:Syndrome
D003306:Coproporphyrins; D011166:Porphyrins; D000622:Aminolevulinic Acid