Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria.

Abstract

Uroporphyrinogen decarboxylase activity was measured in hemoglobin-free lysates from two patients with hepatoerythropoietic porphyria (HEP) and from 12 unrelated patients with familial porphyria cutanea tarda (PCT). In HEP patients, enzyme activities were 5% of normal, and familial studies clearly confirmed that patients with HEP are cases of homozygous PCT. Immunoreactive uroporphyrinogen decarboxylase was measured by developing a direct and noncompetitive enzyme immunoassay (EIA). For the 12 familial PCT patients, we found an immunoreactive protein decreased (51%) to the same extent as the catalytic activity (48%) [cross-reactive immunological material ( CRIM ) negative]. The children from the HEP family were also CRIM negative, contrasting with another HEP family previously described as CRIM positive; our data support the hypothesis of a heterogeneity in familial uroporphyrinogen decarboxylase deficiency.

• Authors: H de Verneuil, C Beaumont, J C Deybach, Y Nordmann, Z Sfar, R Kastally
• Journal: American journal of human genetics (Am J Hum Genet) Vol. 36 Issue 3 Pg. 613-22 (May 1984) ISSN: 0002-9297 [Print] United States
• PMID: 6375356 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Porphyrins
• Carboxy-Lyases
• Uroporphyrinogen Decarboxylase

Topics

• Carboxy-Lyases (deficiency)
• Child
• Diseases in Twins
• Erythrocytes (enzymology)
• Female
• Homozygote
• Humans
• Immunoenzyme Techniques
• Liver Diseases (enzymology, genetics)
• Male
• Pedigree
• Porphyrias (enzymology, genetics)
• Porphyrins (analysis)
• Skin Diseases (enzymology, genetics)
• Uroporphyrinogen Decarboxylase (analysis, deficiency)