Hereditary coproporphyria

Hereditary coproporphyria is a rare autosomal dominant acute hepatic porphyria caused by mutations in the *CPOX* gene, which leads to a deficiency in the mitochondrial enzyme coproporphyrinogen-III oxidase This enzymatic defect disrupts the heme biosynthetic pathway, resulting in the pathologic accumulation and excretion of porphyrin precursors—such as porphobilinogen—and coproporphyrin III Clinically, it affects the nervous system and integumentary system, typically presenting with episodic, li...

Hereditary coproporphyria is a rare autosomal dominant acute hepatic porphyria caused by mutations in the *CPOX* gene, which leads to a deficiency in the mitochondrial enzyme coproporphyrinogen-III oxidase

This enzymatic defect disrupts the heme biosynthetic pathway, resulting in the pathologic accumulation and excretion of porphyrin precursors—such as porphobilinogen—and coproporphyrin III Clinically, it affects the nervous system and integumentary system, typically presenting with episodic, life-threatening neurovisceral attacks characterized by severe abdominal pain, autonomic dysfunction, motor neuropathies, and psychiatric disturbances, frequently precipitated by porphyrogenic drugs, fasting,...

This enzymatic defect disrupts the heme biosynthetic pathway, resulting in the pathologic accumulation and excretion of porphyrin precursors—such as porphobilinogen—and coproporphyrin III

Clinically, it affects the nervous system and integumentary system, typically presenting with episodic, life-threatening neurovisceral attacks characterized by severe abdominal pain, autonomic dysfunction, motor neuropathies, and psychiatric disturbances, frequently precipitated by porphyrogenic drugs, fasting, or hormonal shifts Unlike most other acute porphyrias, a subset of affected individuals also exhibits cutaneous photosensitivity, presenting with skin fragility, erythema, and bullous les...

Unlike most other acute porphyrias, a subset of affected individuals also exhibits cutaneous photosensitivity, presenting with skin fragility, erythema, and bullous lesions on sun-exposed areas