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K387

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.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

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 features

Clinical signs are erythrodontia (brownish discoloured teeth) and reddish brown urine.

Additional information

References

Pubmed ID: 20485863

Omia ID: 1175

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