Abstract
Congenital porphyria, also called congenital erythropoietic porphyria and Günther’s disease, is an extremely rare condition characterized by the onset of photosensitivity in early life. There is overproduction of porphyries of the series 1 variety. These accumulate in the normoblasts of the bone marrow and are excreted in excess in the urine and feces. Porphyries are also deposited in the bones and teeth, resulting in a pink-brown discoloration. Hemolytic anemia sometimes associated with hypersplenism occurs in a proportion of patients. In this form of porphyria there is no overproduction of porphyrin precursors and patients do not experience attacks of neurovisceral dysfunction.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 1987 Springer Science+Business Media New York
About this chapter
Cite this chapter
Moore, M.R., McColl, K.E.L., Rimington, C., Goldberg, A. (1987). Congenital Porphyria. In: Disorders of Porphyrin Metabolism. Topics in Hematology. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-1277-2_9
Download citation
DOI: https://doi.org/10.1007/978-1-4684-1277-2_9
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4684-1279-6
Online ISBN: 978-1-4684-1277-2
eBook Packages: Springer Book Archive