Congenital Erythropoietic Porphyria
📋Overview
This condition, also known as Günther disease, results from a genetic mutation that leads to the systemic accumulation of porphyrins. Because these compounds react to light, their presence in the skin and tissues can cause cellular damage following environmental exposure.
The disorder is classified among the porphyrias, a group of metabolic diseases involving enzymatic defects in the heme biosynthesis pathway. In this specific form, the deficiency of uroporphyrinogen III synthase typically results in an overproduction of porphyrins that impact the bone marrow and other organs.
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This content is provided for general health education and awareness and is based on publicly available medical information. It is not intended to replace professional medical advice, diagnosis, or treatment, and should not be used to make healthcare decisions. Always seek the guidance of a qualified healthcare professional regarding any medical condition, medication, supplement, or procedure.
Additional Resources
Medical codes (for reference)
UMLS CUI: C5886774Codes are provided for reference and interoperability. They are not a diagnosis.
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