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hepatoerythropoietic porphyria
Probably homozygous form of familial porphyria cutanea tarda
Epidemiology: rare
Genetics:
- autosomal recessive
- associated with defects in UROD
Clinical manifestations:
- severe form of cutaneous porphyria
- presents in infancy
Laboratory:
- erythrocyte uroporphyrinogen decarboxylase (UROD) is very low
- UROD is also low in cultured skin fibroblasts
General
porphyria cutanea tarda (PCT)
Database Correlations
OMIM 176100
References
- UniProt :accession P06132
- OMIM :accession 176100