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Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria.
Am J Hum Genet 1984; 36(3):613-22AJ

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

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

6375356

Citation

de Verneuil, H, et al. "Enzymatic and Immunological Studies of Uroporphyrinogen Decarboxylase in Familial Porphyria Cutanea Tarda and Hepatoerythropoietic Porphyria." American Journal of Human Genetics, vol. 36, no. 3, 1984, pp. 613-22.
de Verneuil H, Beaumont C, Deybach JC, et al. Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria. Am J Hum Genet. 1984;36(3):613-22.
de Verneuil, H., Beaumont, C., Deybach, J. C., Nordmann, Y., Sfar, Z., & Kastally, R. (1984). Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria. American Journal of Human Genetics, 36(3), pp. 613-22.
de Verneuil H, et al. Enzymatic and Immunological Studies of Uroporphyrinogen Decarboxylase in Familial Porphyria Cutanea Tarda and Hepatoerythropoietic Porphyria. Am J Hum Genet. 1984;36(3):613-22. PubMed PMID: 6375356.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria. AU - de Verneuil,H, AU - Beaumont,C, AU - Deybach,J C, AU - Nordmann,Y, AU - Sfar,Z, AU - Kastally,R, PY - 1984/5/1/pubmed PY - 1984/5/1/medline PY - 1984/5/1/entrez SP - 613 EP - 22 JF - American journal of human genetics JO - Am. J. Hum. Genet. VL - 36 IS - 3 N2 - 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. SN - 0002-9297 UR - https://www.unboundmedicine.com/medline/citation/6375356/Enzymatic_and_immunological_studies_of_uroporphyrinogen_decarboxylase_in_familial_porphyria_cutanea_tarda_and_hepatoerythropoietic_porphyria_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6375356/ DB - PRIME DP - Unbound Medicine ER -