Porphyria
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 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.
Breeds
–
Order details
| Test number | Included only in LABOGeneticsXXL – Cat |
Test specifications
| Inheritance | autosomal-recessive |
| Gene | HMBS |
| Mutation | G-A |
| Literature | OMIA:001493-9685 |
Porphyria - D36Vfster6
General description
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).
Breeds
–
Order details
| Test number | Included only in LABOGeneticsXXL – Cat |
Test specifications
| Inheritance | autosomal-dominant |
| Gen | HMBS |
| Mutation | DEL |
| References | OMIA:001493-9685 |
Porphyria (G281del)
General description
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.
Breeds
Siamese
Order details
| Test number | Included only in LABOGeneticsXXL – Cat |
Test specifications
| Inheritance | autosomal-dominant |
| Gen | HMBS |
| Mutation | DEL |
| References | OMIA:001493-9685 |
Porphyria (L64Sfster2)
General description
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.
Breeds
Siamese
Order details
| Test number | Included only in LABOGeneticsXXL – Cat |
Test specifications
| Inheritance | autosomal-dominant |
| Gen | HMBS |
| Variant | INS |
| References | OMIA:001493-9685 |
Porphyria (splice)
General description
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.
Breeds
–
Order details
| Test number | Included only in LABOGeneticsXXL – Cat |
Test specifications
| Inheritance | autosomal-dominant |
| Gen | HMBS |
| Mutation | G-A |
| References | OMIA:001493-9685 |
