Table 1.
Type | Percent of Cases | Nature of Defect |
---|---|---|
I | 75-80 | Acquired defect leading to decreased activity of hepatic UROD [<25% normal activity] |
II | 20-25 | Hereditary partial defect in UROD activity [~50% of normal] in all tissues. Other factors also required to produce clinical features |
III | <1 | Very rare. Apparently inherited defect in an as yet unknown gene that leads to a secondary critical decrease in hepatic UROD activity. |
UROD is uroporphyrinogen decarboxylase