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DeCS
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Descriptor English:
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Porphyria, Hepatoerythropoietic
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Descriptor Spanish:
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Porfiria Hepatoeritropoyética
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Descriptor Portuguese:
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Porfiria Hepatoeritropoética
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Synonyms English:
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Erythrohepatic Porphyria
Erythrohepatic Porphyrias
Hepatoerythropoietic Porphyria
Hepatoerythropoietic Porphyrias
Porphyria, Erythrohepatic
Porphyrias, Erythrohepatic
Porphyrias, Hepatoerythropoietic
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Tree Number:
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C06.552.830.437
C16.320.850.742.437
C17.800.827.742.437
C18.452.811.400.437
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Definition English:
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An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating. |
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Indexing Annotation English:
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do not confuse with PORPHYRIAS, HEPATIC or PORPHYRIA, ERYTHROPOIETIC
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History Note English:
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2005 (1993)
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Allowable Qualifiers English:
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Record Number:
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30607
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Unique Identifier:
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D017121
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Occurrence in VHL:
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Similar:
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DeCS
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