Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review
Abstract Background Erythropoietic protoporphyria is an inherited disorder characterized by mutations in the FECH gene, which encodes the enzyme ferrous chelatase. These mutations disrupt normal heme synthesis, leading to the accumulation of protoporphyrin in erythrocytes and other tissues. Clinical...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-07-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03860-8 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|