OMIA:001175-9915 : Porphyria, congenital erythropoietic in Bos indicus
In other species: domestic cat , pig , cattle
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 263700 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: yes
Cross-species summary: Porphyrins are a class of organic compounds characterised by four pyrrole nuclei connected in a ring structure. When combined with iron, porphyrins form haem, which is a component of haemoglobin, cytochromes, catalases and peroxidases. Thus, porphyrins are constituents of many compounds that play a vital role in biological systems. The biosynthesis of porphyrins involves a six-step process, starting with aminolaevulinic acid (ALA) and ending with protoporphyrin. Each step is catalysed by an enzyme. A deficiency of any one of these enzymes results in a buildup of intermediates prior to the step for which the enzyme is lacking, and a deficiency of intermediates after that step. In much of the literature, these intermediates are loosely called porphyrins. Congenital eryhtropoietic porphyria results from a deficiency of the third enzyme, uroporphyrinogen III cosynthetase, and a consequent buildup of intermediates (i.e. a buildup of porphyrins) that have been synthesised in the three previous steps.
Species-specific description: Queiroz et al. (2021) describe "a presumptive case of CEP in a Gir calf based on clinical and pathological findings. An intron 8 single-nucleotide polymorphism (SNP) in both the Gir calf and control animals, along with the absence of the uroporphyrin III synthetase (UROS) gene mutation, was observed."
Clinical features: Queiroz et al. (2021): "A 3-day-old Gir calf showed teeth discoloration, fever, dehydration, and dyspnea."
Pathology: Queiroz et al. (2021): "The main gross findings were pink-colored teeth, red-brown periosteum and bone marrow, and a fluorescent bright pink coloration of the bone marrow and articular surfaces under ultraviolet light. Aggregates of periodic acid-Schiff (PAS)-stained porphyrin pigments were evident in the lungs, kidneys, and the liver."
Breed: Gir (Cattle) (VBO_0000215).
|2021||Queiroz, C.R.R., Machado, M., Bromberger, C.R., Oliveira-Filho, J.P., Borges, A.S., Soto-Blanco, B., Borges, J.R.J., Câmara, A.C.L., de Castro, M.B. :|
|Case Report: A Possible Case of Congenital Erythropoietic Porphyria in a Gir Calf: A Clinical, Pathological, and Molecular Approach. Front Vet Sci 8:632762, 2021. Pubmed reference: 33778038 . DOI: 10.3389/fvets.2021.632762.|
- Created by Imke Tammen2 on 19 Apr 2021
- Changed by Imke Tammen2 on 19 Apr 2021