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It is an autosomal recessive disorder, which results from deficiency of enzyme uroporphyrinogen III cosynthase (or uroporphyrinogen III synthase).
[1,2] Primary abnormality in CEP is due to decreased uroporphyrinogen III cosynthase activity resulting in accumulation and hyperexcretion of biologically inactive type I porphyrins.
CEP is due to deficiency of the enzyme uroporphyrinogen III cosynthase (UIIIC).