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DeCS
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Descriptor English:
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Protoporphyria, Erythropoietic
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Descriptor Spanish:
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Protoporfiria Eritropoyética
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Descriptor Portuguese:
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Protoporfiria Eritropoética
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Synonyms English:
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Deficiencies, Ferrochelatase
Deficiencies, Heme Synthetase
Deficiency, Ferrochelatase
Deficiency, Heme Synthetase
Erythrohepatic Protoporphyria
Erythropoietic Protoporphyria
Erythropoietic Protoporphyrias
Ferrochelatase Deficiencies
Ferrochelatase Deficiency
Heme Synthetase Deficiencies
Heme Synthetase Deficiency
Protoporphyrias, Erythropoietic
Synthetase Deficiencies, Heme
Synthetase Deficiency, Heme
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Tree Number:
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C06.552.830.812
C16.320.850.742.812
C17.800.827.742.812
C18.452.811.400.812
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Definition English:
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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. |
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Indexing Annotation English:
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do not confuse with PORPHYRIA, ERYTHROPOIETIC
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See Related English:
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Ferrochelatase
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History Note English:
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2005; use PORPHYRIA, ERYTHROHEPATIC 1993-2004
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Allowable Qualifiers English:
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Record Number:
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38626
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Unique Identifier:
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D046351
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Occurrence in VHL:
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Similar:
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DeCS
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