Congenital Erythropoietic Porphyria
Guenther PorphyriaGunther Disease
Educational overview only. This page summarizes publicly available health information for general understanding and awareness. It does not provide medical advice, diagnosis, or treatment. For personalized guidance or care decisions, consult a qualified healthcare professional.
📋Overview
Congenital erythropoietic porphyria (CEP), also known as Günther disease, is a rare inherited disorder characterized by a deficiency of the enzyme uroporphyrinogen III synthase. This enzyme defect leads to accumulation of porphyrins, causing photosensitivity and damage to skin and other tissues. CEP is classified among the porphyrias, a group of disorders involving abnormalities in heme biosynthesis.
Sections:
Additional Resources
Medical codes (for reference)
UMLS CUI: C5886774ICD-10-CM
E80.0
MeSH
D017092
SNOMED CT (US)
22935002190913009
Codes are provided for reference and interoperability. They are not a diagnosis.
Found an Error?
Help us keep this information accurate. If you notice any incorrect details, please submit a correction request.