Clinical Information

The porphyrias are a group of inherited disorders resulting from enzyme defects in the heme biosynthetic pathway. Congenital erythropoietic porphyria (CEP) is an extremely rare, autosomal recessive porphyria that typically presents in early infancy. Also known as Gunther disease, CEP results from a deficiency of uroporphyrinogen III (co-) synthase (UROIIIS). In most cases, the disorder is suggested during the first few days or weeks of life by pink, violet, or brown urinary staining of diapers. Clinical symptoms include hemolytic anemia, hepatosplenomegaly, skin photosensitivity, scarring and blistering, red or brown dental discoloration (erythrodontia), and hypertrichosis (excess body hair). Growth and cognitive developmental delays are commonly observed in individuals with CEP. A few cases of adult-onset CEP have been reported, typically associated with a myelodysplastic syndrome.

The workup of patients with a suspected porphyria is most effective when following a stepwise approach. Molecular confirmatory testing is available on a clinical basis; order CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies; specify UROS Gene List ID: IEMCP-8W4945. For more information see Porphyria (Cutaneous) Testing Algorithm or call 800-533-1710 to discuss testing strategies.