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Bovine Protoporphyria

MedGen UID:
1372090
•Concept ID:
C4329489
•
Disease or Syndrome

Definition

A congenital metabolic disorder characterized by a deficiency in the enzyme ferrochelatase, which occurs in cattle. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBovine Protoporphyria

Recent clinical studies

Etiology

Bovine protoporphyria: documentation of autosomal recessive inheritance and comparison with the human disease through measurement of heme synthase activity.
Bloomer JR, Morton KO, Reuter RJ, Ruth GR
Am J Hum Genet 1982 Mar;34(2):322-30. PMID: 7072720Free PMC Article

Prognosis

A novel stop codon mutation (X417L) of the ferrochelatase gene in bovine protoporphyria, a natural animal model of the human disease.
Jenkins MM, LeBoeuf RD, Ruth GR, Bloomer JR
Biochim Biophys Acta 1998 Oct 22;1408(1):18-24. doi: 10.1016/s0925-4439(98)00052-0. PMID: 9784594

Clinical prediction guides

A novel stop codon mutation (X417L) of the ferrochelatase gene in bovine protoporphyria, a natural animal model of the human disease.
Jenkins MM, LeBoeuf RD, Ruth GR, Bloomer JR
Biochim Biophys Acta 1998 Oct 22;1408(1):18-24. doi: 10.1016/s0925-4439(98)00052-0. PMID: 9784594

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