Coexistence of deficiencies of uroporphyrinogen III synthase and decarboxylase in a patient with congenital erythropoietic porphyria and in his family.
A hitherto undescribed dual deficiency of uroporphyrinogen III synthase and uroporphyrinogen decarboxylase was observed in the erythrocytes in a 14 year-old patient who had presented with congenital erythropoietic porphyria since early childhood. Whereas congenital erythropoietic porphyria was metabolically and clinically overt, a hereditary deficiency of uroporphyrinogen decarboxylase was confirmed by family study. The uroporphyrinogen III synthase activity of the propositus was decreased to 26% of the control while his asymptomatic family members had activities between 53-65% of the control. Additionally, the uroporphyrinogen decarboxylase activity was 55-66% of the control in the patient and his family. Family investigations have shown that the two disorders do not consistently segregate together. Although urinary porphyrin excretions of relatives were in the physiological range, the proportion of coproporphyrin isomer I showed a relative increase, which can serve as a biochemical indicator for heterozygous uroporphyrinogen III synthase gene carriers.
Freesemann
A G
AG
Abteilung für Klinische Biochemie, Fachbereich Humanmedizin und Klinikum, Philipps-Universität, Marburg, Germany.
Hofweber
K
K
Doss
M O
MO
D000293:Adolescent; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D017092:Porphyria, Erythropoietic / Q000201:enzymology* / Q000235:genetics; D014575:Uroporphyrinogen Decarboxylase / Q000172:deficiency*
D014575:Uroporphyrinogen Decarboxylase