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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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Erythropoietic Protoporphyria
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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. |
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 CID-10 SciELO LILACS LIS
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