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[Enzymatic and molecular studies in a case of hepato-erythropoietic porphyria. Homozygote form of type familial cutaneous porphyria].
Arch Fr Pediatr. 1992 Dec; 49(10):907-11.AF

Abstract

BACKGROUND

Porphyrias are either hepatic or erythroid, depending on the principal site of the specific enzymatic defect. Homozygous uroporphyrinogen decarboxylase deficiency, known as hepato-erythropoietic porphyria (HEP), can involve several mutations.

CASE REPORT

A young man, aged 20 years, had gradually developed photosensitivity since the age of 1 year, leading to hypertrichosis and sclerodermoid changes in sun-exposed areas of skin. He displayed high urinary uroporphyrin and 7-carboxylic porphyrins, and elevated fecal and red blood cell iso-coproporphyrin and coproporphyrin. Erythrocyte uroporphyrinogen decarboxylase activity of the patient was reduced to 18% of normal control values, while those of his grandmother and his half-brother were 62-65% of normal.

MOLECULAR BIOLOGY

Amplification of the genomic DNA by PCR and hybridization with allele-specific oligonucleotides (ASOs) demonstrated the presence of a Gly 281-->Glu mutation in the patient and in his grandmother and half-brother.

CONCLUSION

Enzymatic studies and details of the familial lineage are important for precisely classifying this type of porphyria. Molecular biology studies are necessary before considering any future gene therapy.

Authors+Show Affiliations

Département de Biochimie Médicale et Biologie Moléculaire, Université de Bordeaux II.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

1363904

Citation

de Verneuil, H, et al. "[Enzymatic and Molecular Studies in a Case of Hepato-erythropoietic Porphyria. Homozygote Form of Type Familial Cutaneous Porphyria]." Archives Francaises De Pediatrie, vol. 49, no. 10, 1992, pp. 907-11.
de Verneuil H, Moreau-Gaudry F, Laradi S, et al. [Enzymatic and molecular studies in a case of hepato-erythropoietic porphyria. Homozygote form of type familial cutaneous porphyria]. Arch Fr Pediatr. 1992;49(10):907-11.
de Verneuil, H., Moreau-Gaudry, F., Laradi, S., Cruces, M. J., de la Torre, C., & Aris, L. F. (1992). [Enzymatic and molecular studies in a case of hepato-erythropoietic porphyria. Homozygote form of type familial cutaneous porphyria]. Archives Francaises De Pediatrie, 49(10), 907-11.
de Verneuil H, et al. [Enzymatic and Molecular Studies in a Case of Hepato-erythropoietic Porphyria. Homozygote Form of Type Familial Cutaneous Porphyria]. Arch Fr Pediatr. 1992;49(10):907-11. PubMed PMID: 1363904.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Enzymatic and molecular studies in a case of hepato-erythropoietic porphyria. Homozygote form of type familial cutaneous porphyria]. AU - de Verneuil,H, AU - Moreau-Gaudry,F, AU - Laradi,S, AU - Cruces,M J, AU - de la Torre,C, AU - Aris,L F, PY - 1992/12/1/pubmed PY - 1992/12/1/medline PY - 1992/12/1/entrez SP - 907 EP - 11 JF - Archives francaises de pediatrie JO - Arch. Fr. Pediatr. VL - 49 IS - 10 N2 - BACKGROUND: Porphyrias are either hepatic or erythroid, depending on the principal site of the specific enzymatic defect. Homozygous uroporphyrinogen decarboxylase deficiency, known as hepato-erythropoietic porphyria (HEP), can involve several mutations. CASE REPORT: A young man, aged 20 years, had gradually developed photosensitivity since the age of 1 year, leading to hypertrichosis and sclerodermoid changes in sun-exposed areas of skin. He displayed high urinary uroporphyrin and 7-carboxylic porphyrins, and elevated fecal and red blood cell iso-coproporphyrin and coproporphyrin. Erythrocyte uroporphyrinogen decarboxylase activity of the patient was reduced to 18% of normal control values, while those of his grandmother and his half-brother were 62-65% of normal. MOLECULAR BIOLOGY: Amplification of the genomic DNA by PCR and hybridization with allele-specific oligonucleotides (ASOs) demonstrated the presence of a Gly 281-->Glu mutation in the patient and in his grandmother and half-brother. CONCLUSION: Enzymatic studies and details of the familial lineage are important for precisely classifying this type of porphyria. Molecular biology studies are necessary before considering any future gene therapy. SN - 0003-9764 UR - https://www.unboundmedicine.com/medline/citation/1363904/[Enzymatic_and_molecular_studies_in_a_case_of_hepato_erythropoietic_porphyria__Homozygote_form_of_type_familial_cutaneous_porphyria]_ L2 - http://www.diseaseinfosearch.org/result/5879 DB - PRIME DP - Unbound Medicine ER -