Porphyria in Domestic Animals: Danish Observations in Pigs and Cattle and Comparison With Human Porphyria

Jorgensen, Sarah

doi:10.1111/j.1749-6632.1963.tb17703.x

Cited by 30 publications

(10 citation statements)

References 10 publications

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“…Jørgensen (145) found cases in a familial pattern and claimed to have identified the common ancestor, which unfortunately was only referred to by the code L.W. Additional pedigree analyses were not possible, so the occurrence of this defect in the Danish Holstein and Shorthorn breeds was not completely resolved (148). Although most cases have been seen in the Shorthorn or Holstein breeds or their crosses in Denmark, a single case in a red coloured cow has been reported (240).…”

Section: Congenital Erythropoietic Porphyriamentioning

confidence: 96%

“…33). Bony discoloration can be seen in affected foetuses around the third month of gestation (146,148,283). Some cases may remain undiagnosed until slaughter, when systemic brown discoloration of bones and teeth is recognised.…”

Section: Congenital Erythropoietic Porphyriamentioning

confidence: 97%

“…Abnormal coloration of internal organs may be present due to accumulation of porphyrins or other forms of pigment, i.e. haemosiderin (146)(147)(148)151).…”

Section: Congenital Erythropoietic Porphyriamentioning

confidence: 99%

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Inherited Disorders in Danish Cattle

Agerholm¹

2007

Apmis

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Section: Congenital Erythropoietic Porphyriamentioning

confidence: 96%

Section: Congenital Erythropoietic Porphyriamentioning

confidence: 97%

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Inherited Disorders in Danish Cattle

Agerholm¹

2007

Apmis

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“…Naturally occurring animal models of congenital porphyria with erythrodontia were described decades ago in cattle (20)(21)(22), pigs (21,23) and cats (24,25). A previously reported feline model had an autosomal dominant CEP-like phenotype (that is, erythrodontia) and elevated urinary and/or tissue PBG, URO and COPRO.…”

Section: Introductionmentioning

confidence: 99%

Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation

Clavero

Bishop

Giger

et al. 2010

Mol Med

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The first feline model of human congenital erythropoietic porphyria (CEP) due to deficient uroporphyrinogen III synthase (UROsynthase) activity was identified by its characteristic clinical phenotype, and confirmed by biochemical and molecular genetic studies. The proband, an adult domestic shorthair cat, had dark-red urine and brownish discolored teeth with red fluorescence under ultraviolet light. Biochemical studies demonstrated markedly increased uroporphyrinogen I in urine and plasma (2,650-and 10,700-fold greater than wild type, respectively), whereas urinary 5-aminolevulinic acid and porphobilinogen were lower than normal. Erythrocytic URO-synthase activity was <1% of mean wild-type activity, confirming the diagnosis and distinguishing it from feline phenocopies having acute intermittent porphyria. Sequencing of the affected cat's UROS gene revealed two missense mutations, c.140C>T (p.S47F) in exon 3 and c.331G>A (p.G111S) in exon 6, both of which were homozygous, presumably owing to parental consanguinity. Neither was present in 100 normal cat alleles. Prokaryotic expression and thermostability studies of the purified monomeric wild-type, p.S47F, p.G111S, and p.S47F/G111S enzymes showed that the p.S47F enzyme had 100% of wild-type specific activity but ~50% decreased thermostability, whereas the p.G111S and p.S47F/G111S enzymes had about 60% and 20% of wild-type specific activity, respectively, and both were markedly thermolabile. Molecular modeling results indicated that the less active/less stable p.G111S enzyme was further functionally impaired by a structural interaction induced by the presence of the S47F substitution. Thus, the synergistic interaction of two rare amino acid substitutions in the URO-synthase polypeptide caused the feline model of human CEP.

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“…Similarly, porphyric pigs presenting with erythrodontia and porphyrinuria were initially reported as having autosomal dominant congenital porphyria (Jorgensen and With, 1963), but are most likely to have had AIP.…”

mentioning

confidence: 99%

Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses

Clavero

Ahuja

Bishop

et al. 2013

The Veterinary Journal

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Erythrodontia is the hallmark of human congenital erythropoietic porphyria (CEP), but is also a major phenotypic feature of acute intermittent porphyria (AIP) in cats. In this study, detailed biochemical and molecular analyses were performed on two unrelated cats with autosomal dominant AIP that presented with erythrodontia, yellow-brown urine and mild changes in erythrocytes. The cats had elevated concentrations of urinary 5-aminolevulinic acid and porphobilinogen, and half normal erythrocytic hydroxymethylbilane synthase (HMBS) activity. Two novel HMBS mutations were detected; one cat had a deletion (c.107_110delACAG) and one cat had a splicing alteration (c.826-1G>A), both leading to premature stop codons and truncated proteins (p.D36Vfs*6 and p.L276Efs*6, respectively). These studies highlight the importance of appropriate biochemical and molecular genetic analyses for the accurate diagnoses of porphyrias in cats and extend the molecular genetic heterogeneity of feline AIP. Thus, although erythrodontia is a classic sign of congenital erythropoietic porphyria in human beings, cats with erythrodontia may have acute intermittent porphyria, a hepatic porphyria.

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Porphyria in Domestic Animals: Danish Observations in Pigs and Cattle and Comparison With Human Porphyria

Cited by 30 publications

References 10 publications

Inherited Disorders in Danish Cattle

Inherited Disorders in Danish Cattle

Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation

Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses

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