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Protoporphyria, Erythropoietic

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Definition: An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.  do not confuse with PORPHYRIA, ERYTHROPOIETIC   
See Also Ferrochelatase 		Other names Synthetase Deficiencies, Heme; Synthetase Deficiency, Heme; Protoporphyrias, Erythropoietic; Heme Synthetase Deficiencies; Ferrochelatase Deficiencies; Erythropoietic Protoporphyrias; Deficiency, Heme Synthetase; Deficiency, Ferrochelatase; Deficiencies, Heme Synthetase; Deficiencies, Ferrochelatase; Heme Synthetase Deficiency; Ferrochelatase Deficiency; Erythropoietic Protoporphyria

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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
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