Uroporphyrinogen III cosynthetase in asymptomatic carriers of congenital erythropoietic porphyria

An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity.

“…Assays for these enzymes have made family studies possible and the genetic characteristics of the diseases have been documented (6,7).…”

Inherited Disorders in Danish Cattle

“…Porphobilonogen is subsequently synthesised to uroporphyrinogen III by the action of two enzymes, uroporphyrinogen I synthetase and uroporphyrinogen III cosynthase. CEP is caused by deficiency of one of these, uroporphyrinogen III cosynthase (188,249). An intermediary metabolite (hydroxymethylbilane) in this enzymatic step is converted to uroporphyrinogen I, some of which may be further metabolised to coproporphyrinogen I.…”

Pathology in Practice

“…9 The congenital form of the disease is caused by an inherited defect of uroporphyrinogen III cosynthase. 6 Congenital and acquired forms of porphyria in cattle, [10][11][12] swine, 13,14 sheep, 15 dogs, 5,9 cats, 4,6,16-18 fox squirrels, 19 and mice 20 have been described. Although most forms of porphyria are inherited, acquired forms (ie, experimentally induced with drugs or chemicals) of porphyria have been established in dogs, 9 calves, 21 Figure 2-Photographs of a femur from a healthy 2-month-old kitten that died following blunt force trauma (control specimen; A) and a femur from the kitten in Figure 1 (B and C).…”