{"id":289254,"date":"2026-06-22T15:36:41","date_gmt":"2026-06-22T13:36:41","guid":{"rendered":"https:\/\/labogen.com\/genetic-diseases-cat\/porphyria\/"},"modified":"2026-06-29T12:28:49","modified_gmt":"2026-06-29T10:28:49","slug":"porphyria","status":"publish","type":"page","link":"https:\/\/labogen.com\/en\/genetic-diseases-cat\/porphyria\/","title":{"rendered":"Porphyria"},"content":{"rendered":"\t\t
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Porphyria - A84T<\/h1>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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General description<\/strong><\/h4>\n

In cats, a variant in the HMBS gene has been described that causes a form of porphyria corresponding to acute intermittent porphyria (AIP) in humans. In this condition, an enzyme deficiency disrupts heme synthesis, leading to the deposition of porphyrins in tissues, bones, and teeth. The symptoms in the affected cats resembled those of erythropoietic porphyria, with brownish urine and teeth that fluoresced reddish-pink under UV light (erythrodontia). Unlike erythropoietic porphyria, cats with this form do not exhibit increased skin sensitivity to light (hyperphotosensitivity). Symptoms appear as early as a few weeks of age; in particular, the brown discoloration of the teeth is already visible when they erupt. <\/span><\/p>\n

Breeds<\/span><\/strong><\/h4>\n

–<\/p>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Test number<\/strong><\/span><\/td>\nIncluded only in LABOGeneticsXXL – Cat <\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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Inheritance<\/strong><\/span><\/td>\nautosomal-recessive<\/td>\n<\/tr>\n
Gene<\/strong><\/td>\nHMBS<\/td>\n<\/tr>\n
Mutation<\/strong><\/span><\/td>\nG-A<\/td>\n<\/tr>\n
Literature<\/strong><\/td>\nOMIA:001493-9685<\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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\r\n\t\t\tAbout LABOGenetics XXL Cat<\/strong><\/a>\r\n\t <\/div>\r\n\t \t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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Porphyria - D36Vfster6<\/h1>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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General description<\/strong><\/h4>

In Siamese cats, a variant in the HMBS gene has been described that leads to a form of porphyria corresponding to acute intermittent porphyria (AIP) in humans. In this condition, an enzyme deficiency disrupts heme synthesis, leading to the deposition of porphyrins in tissues, bones, and teeth. The symptoms in the affected cats resembled those of erythropoietic porphyria, with brownish urine and teeth that fluoresced reddish-pink under UV light (erythrodontia). Unlike erythropoietic porphyria, cats with this form do not exhibit increased skin sensitivity to light (hyperphotosensitivity). <\/span><\/p>

Breeds<\/span><\/strong><\/h4>

–<\/p>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Test number<\/strong><\/span><\/td>\nIncluded only in LABOGeneticsXXL – Cat <\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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Inheritance<\/strong><\/span><\/td>\nautosomal-dominant<\/td>\n<\/tr>\n
Gen<\/strong><\/td>\nHMBS<\/td>\n<\/tr>\n
Mutation<\/strong><\/span><\/td>\nDEL<\/td>\n<\/tr>\n
References<\/strong><\/td>\nOMIA:001493-9685<\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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\r\n\t\t\tAbout LABOGenetics XXL Cat<\/strong><\/a>\r\n\t <\/div>\r\n\t \t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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Porphyria (G281del)<\/h1>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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General description<\/strong><\/h4>

In Siamese cats, a variant in the HMBS gene has been described that causes porphyria, which corresponds to acute intermittent porphyria (AIP) in humans. In this condition, an enzyme deficiency disrupts heme synthesis, leading to the deposition of porphyrins in tissues, bones, and teeth. The symptoms in the affected cats resembled those of erythropoietic porphyria, with brownish urine and teeth that fluoresced reddish-pink under UV light (erythrodontia). Unlike erythropoietic porphyria, cats with this form do not exhibit increased skin sensitivity to light (hyperphotosensitivity). Symptoms appear as early as a few weeks of age; in particular, the brown discoloration of the teeth is already visible when the teeth erupt. <\/span><\/p>

Breeds<\/span><\/strong><\/h4>

Siamese<\/p>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Test number<\/strong><\/span><\/td>\nIncluded only in LABOGeneticsXXL – Cat <\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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Inheritance<\/strong><\/span><\/td>\nautosomal-dominant<\/td>\n<\/tr>\n
Gen<\/strong><\/td>\nHMBS<\/td>\n<\/tr>\n
Mutation<\/strong><\/span><\/td>\nDEL<\/td>\n<\/tr>\n
References<\/strong><\/td>\nOMIA:001493-9685<\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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\r\n\t\t\tAbout LABOGenetics XXL Cat<\/strong><\/a>\r\n\t <\/div>\r\n\t \t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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Porphyria (L64Sfster2)<\/h1>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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General description<\/strong><\/h4>

In Siamese cats, a variant in the HMBS gene has been described that causes porphyria, which corresponds to acute intermittent porphyria (AIP) in humans. In this condition, an enzyme deficiency disrupts heme synthesis, leading to the deposition of porphyrins in tissues, bones, and teeth. The symptoms in the affected cats resembled those of erythropoietic porphyria, with brownish urine and teeth that fluoresced reddish-pink under UV light (erythrodontia). Unlike erythropoietic porphyria, cats with this form do not exhibit increased skin sensitivity to light (hyperphotosensitivity). Symptoms appear as early as a few weeks of age; in particular, the brown discoloration of the teeth is already visible when they erupt. <\/span><\/p>

Breeds<\/span><\/strong><\/h4>

Siamese<\/p>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Test number<\/strong><\/span><\/td>\nIncluded only in LABOGeneticsXXL – Cat <\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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Inheritance<\/strong><\/span><\/td>\nautosomal-dominant<\/td>\n<\/tr>\n
Gen<\/strong><\/td>\nHMBS<\/td>\n<\/tr>\n
Variant<\/strong><\/span><\/td>\nINS<\/td>\n<\/tr>\n
References<\/strong><\/td>\nOMIA:001493-9685<\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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\r\n\t\t\tAbout LABOGenetics XXL Cat<\/strong><\/a>\r\n\t <\/div>\r\n\t \t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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Porphyria (splice)\n<\/h1>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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General description<\/strong><\/h4>

In cats, a variant in the HMBS gene has been described that leads to a form of porphyria corresponding to acute intermittent porphyria (AIP) in humans. In this condition, an enzyme deficiency disrupts heme synthesis, leading to the deposition of porphyrins in tissues, bones, and teeth. The symptoms in the affected cats resembled those of erythropoietic porphyria, with brownish urine and teeth that fluoresced reddish-pink under UV light (erythrodontia). Unlike erythropoietic porphyria, cats with this form do not exhibit increased skin sensitivity to light (hyperphotosensitivity). Symptoms appear as early as a few weeks of age; in particular, the brown discoloration of the teeth is already visible when they erupt. <\/span><\/p>

Breeds<\/span><\/strong><\/h4>

–<\/p>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Test number<\/strong><\/span><\/td>\nIncluded only in LABOGeneticsXXL – Cat <\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t
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\n\t\t\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/path><\/svg><\/span>\n\t\t\t\t\t\t\t\t<\/path><\/svg><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\tTest specifications<\/a>\n\t\t\t\t\t<\/h6>\n\n\t\t\t\t\t
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Inheritance<\/strong><\/span><\/td>\nautosomal-dominant<\/td>\n<\/tr>\n
Gen<\/strong><\/td>\nHMBS<\/td>\n<\/tr>\n
Mutation<\/strong><\/span><\/td>\nG-A<\/td>\n<\/tr>\n
References<\/strong><\/td>\nOMIA:001493-9685<\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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\r\n\t\t\tAbout LABOGenetics XXL Cat<\/strong><\/a>\r\n\t <\/div>\r\n\t \t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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Porphyria – A84T General description In cats, a variant in the HMBS gene has been described that causes a form of porphyria corresponding to acute intermittent porphyria (AIP) in humans. In this condition, an enzyme deficiency disrupts heme synthesis, leading to the deposition of porphyrins in tissues, bones, and teeth. The symptoms in the affected […]<\/p>\n","protected":false},"author":5,"featured_media":0,"parent":8790,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-289254","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/pages\/289254","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/users\/5"}],"replies":[{"embeddable":true,"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/comments?post=289254"}],"version-history":[{"count":1,"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/pages\/289254\/revisions"}],"predecessor-version":[{"id":289255,"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/pages\/289254\/revisions\/289255"}],"up":[{"embeddable":true,"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/pages\/8790"}],"wp:attachment":[{"href":"https:\/\/labogen.com\/en\/wp-json\/wp\/v2\/media?parent=289254"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}