encyclopedia of medical concepts
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 

Porphyria, Erythropoietic

More information in Books or onNLM PubMed
Definition: An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.  do not confuse with PROTOPORPHYRIA, ERYTHROPOIETIC or PORPHYRIA, HEPATOERYTHROPOIETIC   
See Also Uroporphyrinogen III Synthetase 		Other names Uros Deficiency; Uroporphyrinogen III Synthase, Deficiency of; Porphyria, Erythropoietic, Congenital; Gunther's Disease; Erythropoietic Porphyria; Deficiency of Uroporphyrinogen III Synthase; Porphyrias, Erythropoietic; Porphyrias, Congenital Erythropoietic; Porphyria, Congenital Erythropoietic; Gunthers Disease; Erythropoietic Porphyrias, Congenital; Erythropoietic Porphyrias; Erythropoietic Porphyria, Congenital; Congenital Erythropoietic Porphyrias; Gunther Disease; Congenital Erythropoietic Porphyria

To share this definition, click "text" (Facebook, Twitter) or "link" (blog, mail) then paste text link
Ads by Google

Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
Warning: the drugs or drug combinations referred to here may be similar or related, but are not be the same ones and may not have the same pharmacological action as other substances described on the same page or in the same row. Please refer to product monograph or to your doctor
This website is accredited by Health On the Net Foundation. Click to verify. We comply with the HONcode standard for trustworthy health information: verify here.
About Reference.MD Privacy