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Low tissue ferrochelatase activity

MedGen UID:
1052392
•Concept ID:
CN377526
•
Finding
HPO: HP:6000697

Definition

Concentration or activity of Ferrochelatase (FECH; EC 4.99.1.1) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. FECH is the terminal enzyme of the heme biosynthetic pathway, and catalyzes the insertion of iron into protoporphyrin to form heme. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLow tissue ferrochelatase activity

Recent clinical studies

Diagnosis

5-Aminolevulinic Acid-Induced Protoporphyrin IX Fluorescence Imaging for Tumor Detection: Recent Advances and Challenges.
Harada Y, Murayama Y, Takamatsu T, Otsuji E, Tanaka H
Int J Mol Sci 2022 Jun 9;23(12) doi: 10.3390/ijms23126478. PMID: 35742921Free PMC Article
Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members.
Berroeta L, Man I, Goudie DR, Whatley SD, Elder GH, Ibbotson SH
Br J Dermatol 2007 Nov;157(5):1030-1. Epub 2007 Aug 17 doi: 10.1111/j.1365-2133.2007.08117.x. PMID: 17711525
Analysis of ferrochelatase expression during hematopoietic development of embryonic stem cells.
Magness ST, Tugores A, Brenner DA
Blood 2000 Jun 1;95(11):3568-77. PMID: 10828045

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