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DeCS
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Descriptor English:
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Coproporphyria, Hereditary
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Descriptor Spanish:
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Coproporfiria Hereditaria
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Descriptor Portuguese:
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Coproporfiria Hereditária
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Synonyms English:
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Coproporphyrinogen Oxidase Deficiency
Hereditary Coproporphyria
Deficiency, Coproporphyrinogen Oxidase
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Tree Number:
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C06.552.830.074
C16.320.850.742.074
C17.800.827.742.074
C18.452.811.400.074
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Definition English:
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An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS. |
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History Note English:
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2005; use PORPHYRIA, HEPATIC 1993-2004
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Allowable Qualifiers English:
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Record Number:
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38624
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Unique Identifier:
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D046349
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Occurrence in VHL:
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Similar:
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DeCS CID-10 LILACS
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