OMIA 001175-9913 : Porphyria, congenital erythropoietic in Bos taurus

In other species: domestic cat , pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 263700

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

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 name: Pink tooth

Molecular basis: Agerholm et al. (2012) sequenced the candidate gene UROS in affected and non-affected cattle, and identified a SNP in intron 8 that segregates with the disorder in all available cases. However, the authors concluded that analysis of more cases is required before a definite conclusion can be drawn about the causative mutation.

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2012 Agerholm, J.S., Thulstrup, P.W., Bjerrum, M.J., Bendixen, C., Jørgensen, C.B., Fredholm, M. :
A molecular study of congenital erythropoietic porphyria in cattle. Anim Genet 43:210-5, 2012. Pubmed reference: 22404357. DOI: 10.1111/j.1365-2052.2011.02228.x.
2009 Huxley, JN., Lloyd, EL., Parker, CS., Woolf, JR., Strugnell, BW. :
Congenital erythropoietic porphyria in a longhorn calf. Vet Rec 165:694-5, 2009. Pubmed reference: 19966335.
1992 Franco, D.A., Lin, T.L., Leder, J.A. :
Bovine Congenital Erythropoietic Porphyria- Bovine Review Article Compendium on Continuing Education for the Practicing Veterinarian 14:822-826, 1992.
1991 Opsomer, G., Dekruif, A. :
A Case of Congenital Porphyria in a Calf Tijdschrift Voor Diergeneeskunde 116:773-776, 1991. Pubmed reference: 1926095.
1985 Rimington, C., Moore, MR. :
Porphyria in animals. Clin Dermatol 3:144-55, 1985. Pubmed reference: 3880043.
1980 Ichijo, S., Konishi, T., Sasaki, S., Oboshi, K. :
A case of bovine congenital porphyria (phorphyria erthropoietica) Japanese Journal of Veterinary Science 42:725-729, 1980. Pubmed reference: 7230580.
1979 Del Batlle, AM., De Xifra, EA., Stella, AM., Bustos, N., With, TK. :
Studies on porphyrin biosynthesis and enzymes involved in bovine congenital erythropoietic porphyria. Clin Sci (Lond) 57:63-70, 1979. Pubmed reference: 477249.
Scott, DW., Mort, JD., Tennant, BC. :
Dermatohistopathologic changes in bovine congenital porphyria. Cornell Vet 69:145-58, 1979. Pubmed reference: 467077.
1975 Haydon, M. :
Inherited congenital porphyria in calves Canadian Veterinary Journal 16:118-120, 1975. Pubmed reference: 1131790.
Levin, EY. :
Comparative aspects of porphyria in man and animals. Ann N Y Acad Sci 244:481-95, 1975. Pubmed reference: 1094883.
1974 Levin, EY. :
Comparative aspects of porphyria in man and animals. Ann N Y Acad Sci 241:347-59, 1974. Pubmed reference: 4530664.
1973 Engel, RR., Bracho, M., Schwartz, S., Rodkey, FL. :
Carboxyhemoglobin and fecal urobilinogen in bovine erythropoietic porphyria. Am J Vet Res 34:743-6, 1973. Pubmed reference: 4707558.
Rimington, C., With, TK. :
Porphyrin studies in congenital erythropoietic porphyria. Studies on a sample of faeces and a sample of urine from a patient with C.E.P. and comparison with a bovine case of this disease. Dan Med Bull 20:5-12, 1973. Pubmed reference: 4735159.
Zinkl, J., Kaneko, JJ. :
Erythrocytic enzymes and glycolytic intermediates in the normal bovine and in bovine erythropoietic porphyria. Comp Biochem Physiol A Comp Physiol 45:463-76, 1973. Pubmed reference: 4145440.
1972 Seawright, AA., Watt, DA. :
Congenital porphyria in a bovine carcase. Aust Vet J 48:35, 1972. Pubmed reference: 5062407.
1971 Kaneko, JJ., Zinkl, JG., Keeton, KS. :
Erythrocyte porphyrin and erythrocyte survival in bovine erythropoietic porphyria. Am J Vet Res 32:1981-5, 1971. Pubmed reference: 5131421.
1970 Moore, WE. :
Metabolic acidosis in bovine erythropoietic porphyria during the neonatal period. Am J Vet Res 31:1561-7, 1970. Pubmed reference: 5469534.
Moore, WE., Stephenson, BD., Anderson, AS., Schwartz, S. :
Detection of the heterozygous state in bovine porphyria: analysis of urinary coproporphyrin isomers. Proc Soc Exp Biol Med 134:926-9, 1970. Pubmed reference: 4989762.
Romeo, G., Glenn, BL., Levin, EY. :
Uroporphyrinogen 3 cosynthetase in asymptomatic carriers of congenital erythpoietic porphyria. Biochem Genet 4:719-26, 1970. Pubmed reference: 5496233.
1969 Kaneko, JJ., Mills, R. :
Erythrocytic enzyme activity, ion concentrations, osmotic fragility, and glutathione stability in bovine erythropoietic porphyria and its carrier state. Am J Vet Res 30:1805-10, 1969. Pubmed reference: 5824907.
1968 Levin, EY. :
Uroporphyrinogen 3 cosynthetase in bovine erythropoietic porphyria. Science 161:907-8, 1968. Pubmed reference: 5667525.
1965 Wass, WM., Hoyt, HH. :
Bovine congenital porphyria: studies on heredity Am J Vet Res 26:654-8, 1965. Pubmed reference: 14316779.
Wass, WM., Hoyt, HH. :
Bovine congenital porphyria: hematologic studies, including porphyrin analyses Am J Vet Res 26:659-67, 1965. Pubmed reference: 14316780.
1963 Jorgensen, S.K. :
Porphyria in domestic animals: Danish observations in pigs and cattle and comparison with human porphyria Annals of the New York Academy of Sciences 104:701-709, 1963. Pubmed reference: 13964925.
Kaneko, J.J. :
Erythrokinetics and iron metabolism in bovine porphyria erythropoietica Annals of the New York Academy of Sciences 104:689-700, 1963. Pubmed reference: 13962203.
1962 Chu, TC., Chu, EJ. :
Porphyrins from congenitally porphyric (pink-tooth) cattle. Biochem J 83:318-25, 1962. Pubmed reference: 14927648.
1961 Jorgensen, S.K. :
Studies on congenital porphyria in cattle in Denmark. I. Distribution of the condition and its mode of inheritance British Veterinary Journal 117:1-10, 1961.
Jorgensen, S.K. :
Studies on congenital porphyria in cattle in Denmark. II. Clinical features, morbid anatomy and chemical pathology British Veterinary Journal 117:61-73, 1961.
1959 Watson, C.J., Perman, V., Spurrell, F.A., Hoyt, H.H., Schwartz, S. :
Some studies of the comparative biology of human and bovine erythropoietic porphyria A.M.A. Archiv Internal Medicine 103:436-444, 1959.
1958 Ellis, D.J., Barner, R.D., Madden, D., Melcer, I., Orten, J.M. :
Congenital porphyria (pink tooth) in Michigan Michigan State University Veterinarian 18:89-94, 1958.
Madden, D.E., Ellis, D.J., Barner, R.D., Melcher, I., Orten, J.M. :
The occurrence of congenital porphyria in Holstein-Friesian cattle Journal of Heredity 49:125-128, 1958.
Nestel, B.L. :
Bovine congenital prophyria (pink tooth), with a note on five cases observed in Jamaica Cornell Veterinarian 48:430-439, 1958. Pubmed reference: 13585840.
Rhode, E.A., Cornelius, C.E. :
Congenital prophyria (Pink tooth) in Holstein Friesian calves in California Journal of the American Veterinary Medical Association 132:112-116, 1958. Pubmed reference: 13491540.
Watson, CJ., Perman, V., Spurrell, FA., Hoyt, HH., Schwartz, S. :
Some studies of the comparative biology of human and bovine porphyria erythropoietica. Trans Assoc Am Physicians 71:196-209, 1958. Pubmed reference: 13603517.
With, TK. :
Preparation of crystalline porphyrin esters from bovine porphyria urine. Biochem J 68:717-20, 1958. Pubmed reference: 14904393.
1957 Amoroso, EC., Loosmore, RM., Rimington, C., Tooth, BE. :
Congenital porphyria in bovines: first living case in Britain. Nature 180:230-1, 1957. Pubmed reference: 13451681.
1955 Jorgensen, S.K., With, T.K. :
Congenital porphyria in swine and cattle in Denmark Nature 176:156-158, 1955. Pubmed reference: 13244638.
1940 Flight, C. :
A case of congenital porphyrinuria (“pink tooth”) in a grade Friesland cow Journal of the South African Veterinary Medical Association 11:16-19, 1940.
1938 Rimington, C., Roets, G.C.S., Fourie, P.J.J. :
Quantitative studies upon porphyrin excretion in bovine congenital porphyrinuria (pink tooth). Number I Onderstepoort Journal of Veterinary Science and Animal Industry 10:421-429, 1938.
1937 Fourie, P.J. :
A further case of congenital porphyrinuria (pink tooth) in a living grade Friesland cow in South Africa. (Cedara case) Onderstepoort Journal of Veterinary Science and Animal Industry 10:431 only, 1937.
Fourie, P.J., Rimington, C. :
Living animal cases of congenital porphyrinuria Nature 140:68 only, 1937.
1936 Rimington, C. :
Some cases of congenital porphyrinuria in cattle: chemical studies upon the living animals and post mortem material Onderstepoort Journal of Veterinary Research 7:567-609, 1936.

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  • Created by Frank Nicholas on 31 Jul 2011
  • Changed by Frank Nicholas on 08 Jun 2012