Uroporphyrinogen III synthase converts hydroxymethylbilane to uroporphyrinogen III. A defect in this enzyme results in congenital erythropoietic porphyria (CEP).
Synonym: Gunther disease
Inheritance: autosomal recessive
Genetic locus: 10q26
Clinical features:
(1) bullae and skin fragility
(2) no neurovisceral signs and symptoms
(3) occasionally a hemolytic anemia
(4) occasionally erythrodontia
Laboratory findings:
(1) porphobilinogen and aminolevulinic acid are not increased in the urine
(2) porphyrins are increased in the urine with uroporphyringen I greater than coproporphyrinogen I
(3) coproporphyrinogen I is increased in the feces
(4) erythrocytes contain zinc protoporphyrin, coproporphyrinogen and uroporphyrinogen
(5) no accumulation of coproporphyrinogen III or uroporphyrinogen III or protoporphyrinogen IX
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