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Literature DB >> 7358389

Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk.

J C Deybach, B Grandchamp, M Grelier, Y Nordmann, J Boué, A Boué, P de Berrianger.

Abstract

Amniotic fluid porphyrins, biosynthesis of porphyrins by amniotic cells, and uroporphyrinogen III cosynthetase were studied after the 17th week of a pregnancy at risk for congenital erythropoietic porphyria (CEP). Only coproporphyrin was found in amniotic fluid. A diagnosis of CEP was ruled out by the demonstration of normal cosynthetase activity; biosynthesis of porphyrins was identical, not only in the porpositus and in control amniotic cells, but also in patients with CEP and in control skin fibroblasts.

Entities: Chemical Disease Species

Mesh：

Substances：

Year: 1980 PMID： 7358389 DOI： 10.1007/bf00273499

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

14 in total

1. Separation of the coproporphyrin isomers I and III by thin layer chromatography.

Authors: J JENSEN
Journal: J Chromatogr Date: 1963-02

2. The occurrence and determination of delta-amino-levulinic acid and porphobilinogen in urine.

Authors: D MAUZERALL; S GRANICK
Journal: J Biol Chem Date: 1956-03 Impact factor: 5.157

3. Uroporphyrinogen 3 cosynthetase activity in fibroblasts from patients with congenital erythropoietic porphyria.

Authors: G Romeo; M M Kaback; E Y Levin
Journal: Biochem Genet Date: 1970-12 Impact factor: 1.890

4. Uroporphyrinogen 3 cosynthetase in asymptomatic carriers of congenital erythpoietic porphyria.

Authors: G Romeo; B L Glenn; E Y Levin
Journal: Biochem Genet Date: 1970-12 Impact factor: 1.890

5. Familial and sporadic porphyria cutanea: two different diseases.

Authors: H de Verneuil; G Aitken; Y Nordmann
Journal: Hum Genet Date: 1978-10-31 Impact factor: 4.132

6. Studies of the uroporphyrins. III. An improved method for the decarboxylation of uroporphyrin.

Authors: P R EDMONDSON; S SCHWARTZ
Journal: J Biol Chem Date: 1953-12 Impact factor: 5.157

7. Uroporphyrinogen 3 cosynthetase in bovine erythropoietic porphyria.

Authors: E Y Levin
Journal: Science Date: 1968-08-30 Impact factor: 47.728

8. Uroporphyrinogen 3 cosynthetase in human congenital erythropoietic porphyria.

Authors: G Romeo; E Y Levin
Journal: Proc Natl Acad Sci U S A Date: 1969-07 Impact factor: 11.205

9. Studies of porphyrin synthesis in fibroblasts of patients with congenital erythropoietic porphyria and one patient with homozygous coproporphyria.

Authors: B Grandchamp; J C Deybach; M Grelier; H de Verneuil; Y Nordmann
Journal: Biochim Biophys Acta Date: 1980-05-22

10. Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: prenatal diagnosis of the porphyric trait.

Authors: S Sassa; G Solish; R D Levere; A Kappas
Journal: J Exp Med Date: 1975-09-01 Impact factor: 14.307

7 in total

7. Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.

Authors: C A Warner; H W Yoo; A G Roberts; R J Desnick
Journal: J Clin Invest Date: 1992-02 Impact factor: 14.808

7 in total

Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk.

1. Separation of the coproporphyrin isomers I and III by thin layer chromatography.

2. The occurrence and determination of delta-amino-levulinic acid and porphobilinogen in urine.

3. Uroporphyrinogen 3 cosynthetase activity in fibroblasts from patients with congenital erythropoietic porphyria.

4. Uroporphyrinogen 3 cosynthetase in asymptomatic carriers of congenital erythpoietic porphyria.

5. Familial and sporadic porphyria cutanea: two different diseases.

6. Studies of the uroporphyrins. III. An improved method for the decarboxylation of uroporphyrin.

7. Uroporphyrinogen 3 cosynthetase in bovine erythropoietic porphyria.

8. Uroporphyrinogen 3 cosynthetase in human congenital erythropoietic porphyria.

9. Studies of porphyrin synthesis in fibroblasts of patients with congenital erythropoietic porphyria and one patient with homozygous coproporphyria.

10. Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: prenatal diagnosis of the porphyric trait.

1. Need for measurement of porphyrins in teardrops in patients with congenital erythropoietic porphyria.

2. Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease).

3. A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family.

Review 4. Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

5. Ocular involvement in two symptomatic congenital erythropoietic porphyria.

6. Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.

7. Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.