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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

Conditions with this feature

Protoporphyria, erythropoietic, 1
MedGen UID:
1643471
Concept ID:
C4692546
Disease or Syndrome
Erythropoietic protoporphyria (EPP) is characterized by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within 30 minutes after exposure to sun or ultraviolet light and may be accompanied by swelling and redness. Symptoms (which may seem out of proportion to the visible skin lesions) may persist for hours or days after the initial phototoxic reaction. Photosensitivity remains for life. Multiple episodes of acute photosensitivity may lead to chronic changes of sun-exposed skin (lichenification, leathery pseudovesicles, grooving around the lips) and loss of lunulae of the nails. Approximately 20%-30% of individuals with EPP have some degree of liver dysfunction, which is typically mild with slight elevations of the liver enzymes. Up to 5% may develop more advanced liver disease which may be accompanied by motor neuropathy similar to that seen in the acute porphyrias.

Recent clinical studies

Diagnosis

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
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
Magness ST, Tugores A, Brenner DA
Blood 2000 Jun 1;95(11):3568-77. PMID: 10828045

Therapy

Aebisher D, Woźnicki P, Czarnecka-Czapczyńska M, Dynarowicz K, Szliszka E, Kawczyk-Krupka A, Bartusik-Aebisher D
Int J Mol Sci 2024 Aug 9;25(16) doi: 10.3390/ijms25168708. PMID: 39201395Free PMC Article

Prognosis

Aebisher D, Woźnicki P, Czarnecka-Czapczyńska M, Dynarowicz K, Szliszka E, Kawczyk-Krupka A, Bartusik-Aebisher D
Int J Mol Sci 2024 Aug 9;25(16) doi: 10.3390/ijms25168708. PMID: 39201395Free PMC Article

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