Tags

Type your tag names separated by a space and hit enter

Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda.
Am J Med Sci. 1998 Jan; 315(1):59-62.AJ

Abstract

A marked discrepancy between mild and late clinical features and a nearly complete absence of erythrocyte uroporphyrinogen decarboxylase activity (Ery-UROD activity) was observed in a case of inherited porphyria cutanea tarda. The entity and time of appearance of clinical features, the onset of clinical symptoms after exposure to contributing factors, the effectiveness of phlebotomies and heterozygosity of the mother alone for uroporphyrinogen decarboxylase (UROD) deficiency were typical for familial porphyria cutanea tarda (F-PCT), whereas the extremely low UROD activity was peculiar to hepatoerythropoietic porphyria (HEP). These observations indicate that: 1) Ery-UROD activity may not always be useful to discriminate between F-PCT and HEP; 2) Ery-UROD activity does not always correlate with clinical symptoms; 3) in inherited UROD deficiency, the genetic defect may be heterogeneous. Finally, the observed discrepancy may provide additional evidence for the existence of tissue-specific isozymes.

Authors+Show Affiliations

Institute for Clinical Medicine (II), University La Sapienza, Rome, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9427577

Citation

Camagna, A, et al. "Erythrocyte Uroporphyrinogen Decarboxylase Activity: Diagnostic Value and Relationship With Clinical Features in Hereditary Porphyria Cutanea Tarda." The American Journal of the Medical Sciences, vol. 315, no. 1, 1998, pp. 59-62.
Camagna A, Del Duca P, Petrinelli P, et al. Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda. Am J Med Sci. 1998;315(1):59-62.
Camagna, A., Del Duca, P., Petrinelli, P., Borelli, L. G., Ciancio, L., Cipollone, L., Misasi, G., Manfredi, M. R., Dionisi, S., & de Martinis, C. (1998). Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda. The American Journal of the Medical Sciences, 315(1), 59-62.
Camagna A, et al. Erythrocyte Uroporphyrinogen Decarboxylase Activity: Diagnostic Value and Relationship With Clinical Features in Hereditary Porphyria Cutanea Tarda. Am J Med Sci. 1998;315(1):59-62. PubMed PMID: 9427577.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda. AU - Camagna,A, AU - Del Duca,P, AU - Petrinelli,P, AU - Borelli,L G, AU - Ciancio,L, AU - Cipollone,L, AU - Misasi,G, AU - Manfredi,M R, AU - Dionisi,S, AU - de Martinis,C, PY - 1998/1/14/pubmed PY - 1998/1/14/medline PY - 1998/1/14/entrez SP - 59 EP - 62 JF - The American journal of the medical sciences JO - Am. J. Med. Sci. VL - 315 IS - 1 N2 - A marked discrepancy between mild and late clinical features and a nearly complete absence of erythrocyte uroporphyrinogen decarboxylase activity (Ery-UROD activity) was observed in a case of inherited porphyria cutanea tarda. The entity and time of appearance of clinical features, the onset of clinical symptoms after exposure to contributing factors, the effectiveness of phlebotomies and heterozygosity of the mother alone for uroporphyrinogen decarboxylase (UROD) deficiency were typical for familial porphyria cutanea tarda (F-PCT), whereas the extremely low UROD activity was peculiar to hepatoerythropoietic porphyria (HEP). These observations indicate that: 1) Ery-UROD activity may not always be useful to discriminate between F-PCT and HEP; 2) Ery-UROD activity does not always correlate with clinical symptoms; 3) in inherited UROD deficiency, the genetic defect may be heterogeneous. Finally, the observed discrepancy may provide additional evidence for the existence of tissue-specific isozymes. SN - 0002-9629 UR - https://www.unboundmedicine.com/medline/citation/9427577/Erythrocyte_uroporphyrinogen_decarboxylase_activity:_diagnostic_value_and_relationship_with_clinical_features_in_hereditary_porphyria_cutanea_tarda_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0002-9629(15)40273-3 DB - PRIME DP - Unbound Medicine ER -