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hereditary coproporphyria

Medical Definition

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.
Related Codes (1)
Code
Description
Billable
Details
E80.29Other porphyria

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