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Congenital erythropoietic porphyria

Jordi To-Figueras1, Angelika L Erwin2, Paula Aguilera3

  • 1Biochemistry and Molecular Genetics Unit, Hospital Clinic, University of Barcelona, Barcelona, Spain.

Liver International : Official Journal of the International Association for the Study of the Liver
|May 8, 2024
PubMed

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease due to the deficient, but not absent, activity of uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthesis pathway. Biallelic variants in the UROS gene result in decreased UROS enzymatic activity and the accumulation of non-physiologic Type I porphyrins in cells and fluids. Overproduced uroporphyrins in haematopoietic cells are released into the circulation and distributed to tissues, inducing primarily hematologic and dermatologic symptoms. The clinical manifestations vary in severity ranging from non-immune hydrops fetalis in utero to mild dermatologic manifestations in adults. Here, the biochemical, molecular and clinical features of CEP as well as current and new treatment options, including the rescue of UROS enzyme activity by chaperones, are presented.

Keywords:
erythroid diseaseheme biosynthesis pathwayporphyriauroporphyrinogen III synthase

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