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Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.
Cell Mol Biol (Noisy-le-grand). 2002 Feb; 48(1):49-55.CM

Abstract

A 27-year-old woman who had recurrent pain in renal bed since 1998 with increasing character, was stationary admitted. The patient showed dark urine, complained of hair loss and took since 1994 a hormonal oral contraceptive. No photosensitivity was observed. Determinations of urinary porphyrin metabolites in 1998 revealed a porphyria cutanea tarda like excretion pattern with elevations of uro- (1767 nmol/24 hr, normal <29 nmol/24 hr) and heptacarboxyporphyrin (568 nmol/24 hr; normal <4 nmol/24 hr). Follow-up studies in feces showed the characteristics of a hereditary coproporphyria with dominance of coproporphyrin isomer III (total= 1470 nmol/g, isomer III= 93%), (normal: <37 nmol/g, isomer III = 25-35%). The excretion of porphyrin precursors (delta-aminolevulinic acid and porphobilinogen) was increased by taking an ethinylestradiol-cyproteronacetate-preparation, but acute and/or chronic manifestations were not observed. Coproporphyrinogen oxidase activity was decreased to 35% in the patient (normal=138+/-21 pkat/g protein; x+/-s), whereas the activity of red cell uroporphyrinogen decarboxylase was normal. Her mother and both sisters could be verified as heterozygous gene carriers of hereditary coproporphyria by their urinary and fecal excretion parameters and because of reduced coproporphyrinogen oxidase activity up to 50%. The father was normal with respect to his genotype. Molecular analysis revealed a hitherto unknown mutation with the transversion of a cytosine to thymine at nucleotide position 854 in exon 4 of the coproporphyrinogen oxidase gene. The gene defect was confirmed by DGGE in the mother and her three daughters. The investigation of the immunological nature of the defective coproporphyrinogen oxidase gene from the whole family revealed decreased concentrations of coproporphyrinogen oxidase protein in the patient, her mother and her two sisters.

Authors+Show Affiliations

Division of Clinical Biochemistry, Philipps University Hospital, Marburg, Germany. Ulrich.Gross@aranea.deNo 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
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

11929047

Citation

Gross, U, et al. "Molecular, Immunological, Enzymatic and Biochemical Studies of Coproporphyrinogen Oxidase Deficiency in a Family With Hereditary Coproporphyria." Cellular and Molecular Biology (Noisy-le-Grand, France), vol. 48, no. 1, 2002, pp. 49-55.
Gross U, Puy H, Kühnel A, et al. Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria. Cell Mol Biol (Noisy-le-grand). 2002;48(1):49-55.
Gross, U., Puy, H., Kühnel, A., Meissauer, U., Deybach, J. C., Jacob, K., Martasek, P., Nordmann, Y., & Doss, M. O. (2002). Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria. Cellular and Molecular Biology (Noisy-le-Grand, France), 48(1), 49-55.
Gross U, et al. Molecular, Immunological, Enzymatic and Biochemical Studies of Coproporphyrinogen Oxidase Deficiency in a Family With Hereditary Coproporphyria. Cell Mol Biol (Noisy-le-grand). 2002;48(1):49-55. PubMed PMID: 11929047.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria. AU - Gross,U, AU - Puy,H, AU - Kühnel,A, AU - Meissauer,U, AU - Deybach,J C, AU - Jacob,K, AU - Martasek,P, AU - Nordmann,Y, AU - Doss,M O, PY - 2002/4/4/pubmed PY - 2002/12/3/medline PY - 2002/4/4/entrez SP - 49 EP - 55 JF - Cellular and molecular biology (Noisy-le-Grand, France) JO - Cell. Mol. Biol. (Noisy-le-grand) VL - 48 IS - 1 N2 - A 27-year-old woman who had recurrent pain in renal bed since 1998 with increasing character, was stationary admitted. The patient showed dark urine, complained of hair loss and took since 1994 a hormonal oral contraceptive. No photosensitivity was observed. Determinations of urinary porphyrin metabolites in 1998 revealed a porphyria cutanea tarda like excretion pattern with elevations of uro- (1767 nmol/24 hr, normal <29 nmol/24 hr) and heptacarboxyporphyrin (568 nmol/24 hr; normal <4 nmol/24 hr). Follow-up studies in feces showed the characteristics of a hereditary coproporphyria with dominance of coproporphyrin isomer III (total= 1470 nmol/g, isomer III= 93%), (normal: <37 nmol/g, isomer III = 25-35%). The excretion of porphyrin precursors (delta-aminolevulinic acid and porphobilinogen) was increased by taking an ethinylestradiol-cyproteronacetate-preparation, but acute and/or chronic manifestations were not observed. Coproporphyrinogen oxidase activity was decreased to 35% in the patient (normal=138+/-21 pkat/g protein; x+/-s), whereas the activity of red cell uroporphyrinogen decarboxylase was normal. Her mother and both sisters could be verified as heterozygous gene carriers of hereditary coproporphyria by their urinary and fecal excretion parameters and because of reduced coproporphyrinogen oxidase activity up to 50%. The father was normal with respect to his genotype. Molecular analysis revealed a hitherto unknown mutation with the transversion of a cytosine to thymine at nucleotide position 854 in exon 4 of the coproporphyrinogen oxidase gene. The gene defect was confirmed by DGGE in the mother and her three daughters. The investigation of the immunological nature of the defective coproporphyrinogen oxidase gene from the whole family revealed decreased concentrations of coproporphyrinogen oxidase protein in the patient, her mother and her two sisters. SN - 0145-5680 UR - https://www.unboundmedicine.com/medline/citation/11929047/Molecular_immunological_enzymatic_and_biochemical_studies_of_coproporphyrinogen_oxidase_deficiency_in_a_family_with_hereditary_coproporphyria_ L2 - http://www.diseaseinfosearch.org/result/3350 DB - PRIME DP - Unbound Medicine ER -