Congenital Erythropoietic Porphyria CEP (2 variants)
Kodas: K469
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Short description
Congenital Erythropoietic Porphyria (CEP) is an inborn error of heme biosynthesis resulting from the deficient function of the enzyme uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthetic pathway.
General Information
Congenital Erythropoietic Porphyria (CEP) is an inborn error of heme biosynthesis resulting from the deficient function of the enzyme uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthetic pathway.
Clinical signs are erythrodontia (brownish discoloured teeth) and reddish brown urine.
Included tests
K387 — Congenital Erythropoietic Porphyria (CEP) 1
K391 — Congenital Erythropoietic Porphyria (CEP) 2
Specifications
| Breeds | All Breeds |
|---|---|
| Organ | NVT |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
References
Pubmed ID:
Omia ID:
Turnaround information
- 10 working days