Tags

Type your tag names separated by a space and hit enter

Red-cell uroporphyrinogen decarboxylase activity in porphyria cutanea tarda and in other forms of porphyria.
N Engl J Med 1978; 299(20):1095-8NEJM

Abstract

To test the diagnostic specificity of reduced red-cell uroporphyrinogen decarboxylase activity for porphyria cutanea tarda, we measured enzymic activity in 29 normal subjects and 65 patients with various forms of porphyria. Only patients with porphyria cutanea tarda had subnormal enzymic activity. Patients with acute intermittent porphyria, erythropoietic protoporphyria, variegate porphyria and hereditary coproporphyria had normal or slightly elevated activities. The enzymic activity in normal persons and patients with porphyria cutanea tarda did not differ according to sex. Reduction of iron stores did not alter the enzymic activity in porphyria cutanea tarda. We conclude that reduced red-cell uroporphyrinogen decarboxylase activity is a specific and intrinsic defect in porphyria cutanea tarda; measurement of this enzyme is a reliable diagnostic test for this disease.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

703786

Citation

Felsher, B F., et al. "Red-cell Uroporphyrinogen Decarboxylase Activity in Porphyria Cutanea Tarda and in Other Forms of Porphyria." The New England Journal of Medicine, vol. 299, no. 20, 1978, pp. 1095-8.
Felsher BF, Norris ME, Shih JC. Red-cell uroporphyrinogen decarboxylase activity in porphyria cutanea tarda and in other forms of porphyria. N Engl J Med. 1978;299(20):1095-8.
Felsher, B. F., Norris, M. E., & Shih, J. C. (1978). Red-cell uroporphyrinogen decarboxylase activity in porphyria cutanea tarda and in other forms of porphyria. The New England Journal of Medicine, 299(20), pp. 1095-8.
Felsher BF, Norris ME, Shih JC. Red-cell Uroporphyrinogen Decarboxylase Activity in Porphyria Cutanea Tarda and in Other Forms of Porphyria. N Engl J Med. 1978 Nov 16;299(20):1095-8. PubMed PMID: 703786.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Red-cell uroporphyrinogen decarboxylase activity in porphyria cutanea tarda and in other forms of porphyria. AU - Felsher,B F, AU - Norris,M E, AU - Shih,J C, PY - 1978/11/16/pubmed PY - 1978/11/16/medline PY - 1978/11/16/entrez SP - 1095 EP - 8 JF - The New England journal of medicine JO - N. Engl. J. Med. VL - 299 IS - 20 N2 - To test the diagnostic specificity of reduced red-cell uroporphyrinogen decarboxylase activity for porphyria cutanea tarda, we measured enzymic activity in 29 normal subjects and 65 patients with various forms of porphyria. Only patients with porphyria cutanea tarda had subnormal enzymic activity. Patients with acute intermittent porphyria, erythropoietic protoporphyria, variegate porphyria and hereditary coproporphyria had normal or slightly elevated activities. The enzymic activity in normal persons and patients with porphyria cutanea tarda did not differ according to sex. Reduction of iron stores did not alter the enzymic activity in porphyria cutanea tarda. We conclude that reduced red-cell uroporphyrinogen decarboxylase activity is a specific and intrinsic defect in porphyria cutanea tarda; measurement of this enzyme is a reliable diagnostic test for this disease. SN - 0028-4793 UR - https://www.unboundmedicine.com/medline/citation/703786/Red_cell_uroporphyrinogen_decarboxylase_activity_in_porphyria_cutanea_tarda_and_in_other_forms_of_porphyria_ L2 - http://www.nejm.org/doi/full/10.1056/NEJM197811162992002?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -