Homozygous hereditary coproporphyria (Q97011): Difference between revisions
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É um distúrbio hereditário autossômico dominante da biossíntese do heme, resultante de uma deficiência parcial de coproporfirinogênio oxidase. É clinicamente caracterizado por ataques de disfunção neurológica e fotossensibilidade ocasional. Esta doença é rara antes da puberdade, e todos os casos de início precoce relatados foram no estado homozigoto ou heterozigoto composto. | |||
| description / en | description / en | ||
This is a hereditary autosomal-dominant disorder of heme biosynthesis resulting from a partial deficiency of coproporphyrinogen oxidase. It is clinically characterised by neurologic dysfunction attacks and occasional photosensitivity. This disease is rare before puberty, and all reported early-onset cases have been in the homozygous or the compound heterozygous state. | |||
Revision as of 13:02, 16 August 2026
This is a hereditary autosomal-dominant disorder of heme biosynthesis resulting from a partial deficiency of coproporphyrinogen oxidase. It is clinically characterised by neurologic dysfunction attacks and occasional photosensitivity. This disease is rare before puberty, and all reported early-onset cases have been in the homozygous or the compound heterozygous state.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1508947573 |
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| English | Homozygous hereditary coproporphyria |
This is a hereditary autosomal-dominant disorder of heme biosynthesis resulting from a partial deficiency of coproporphyrinogen oxidase. It is clinically characterised by neurologic dysfunction attacks and occasional photosensitivity. This disease is rare before puberty, and all reported early-onset cases have been in the homozygous or the compound heterozygous state. |
