Acute intermittent porphyria: Mutation analysis and identification of gene carriers in a German kindred by PCR-DGGE analysis

Skin Pharmacology and Applied Skin Physiology

Volumn 11, Issue 6, 1998, Pages 374-380

  Petrides, Petro E ^a  

^a HUMBOLDT UNIVERSITY   (Germany)

Author keywords

Acute intermittent porphyria; Gene therapy; Mutation analysis; Porphobilinogen deaminase

Indexed keywords

ALCOHOL; AMINOLEVULINIC ACID; HEME; MESSENGER RNA; PORPHOBILINOGEN DEAMINASE; PORPHYRIN;

ACUTE INTERMITTENT PORPHYRIA; ALCOHOL CONSUMPTION; ARTICLE; CALORIC INTAKE; DENATURING GRADIENT GEL ELECTROPHORESIS; ENZYME ACTIVITY; ERYTHROBLAST; GENE MUTATION; GERMANY; HETEROZYGOTE; HUMAN; INFECTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ELECTROPHORESIS; ENZYME INHIBITORS; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; ISOENZYMES; MODELS, MOLECULAR; MOLECULAR STRUCTURE; MUTATION; POLYMERASE CHAIN REACTION; PORPHYRIA, ACUTE INTERMITTENT;

EID: 0032459137     PISSN: 14222868     EISSN: None     Source Type: Journal    
DOI: 10.1159/000029859     Document Type: Article

References (13)

1. Nordmann Y, Puy H, Da Silva V, Simonin S, Robreau AM, Bonaiti C, Phung LN, Deybach JC: Acute intermittent porphyria: Prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France. J Intern Med 1997;242:213-217.
2. Loftus LS, Arnold WN: Vincent van Gogh's illness: Acute intermittent porphyria. BMJ 1991;303:1589-1591.
3. Warren MJ, Jay M, Hunt DM, Elder GH, Rohl JC: The maddening business of King George III and porphyria. Trends Biochem Sci 1996;21:229-234.
4. Gross U, Honcamp M, Doss MO: Heterogeneity of acute intermittent porphyria: A subtype with normal erythrocyte porphobilinogen deaminase activity in Germany. Eur J Clin Chem Clin Biochem 1996;34:613-618.
5. Tenhunen R, Mustajoki P: Acute porphyria: Treatment with heme. Semin Liver Dis 1998;18:53-55.
6. Muthane UB, Vengamma B, Bharathi KC, Mamatha P: Porphyric neuropathy: Prevention of progression using haem-arginate. J Intern Med 1993;234:611-613.
7. Dover SB, Moore MR, Fitzsimmons EJ, Graham A, McColl KE: Tin protoporphyrin prolongs the biochemical remission produced by heme arginate in acute hepatic porphyria. Gastroenterology 1993;105:500-506.
8. Grandchamp B: Acute intermittent porphyria. Semin Liver Dis 1998;18:17-24.
9. Elder GH: Genetic defects in the porphyrias: Types and significance. Clin Dermatol 1998;16:225-233.
10. Puy H, Gross U, Deybach JC, Robreau AM, Frank M, Nordmann Y, Doss M: Exon 1 donor splice mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria. Hum Genet 1998;103:570-575.
11. Grandchamp B, Picat C, Mignotte V, Wilson JH, Te Velde K, Sandkuyl L, Romeo PH, Goossens M, Nordmann Y: Tissue-specific splicing mutation in acute intermittent porphyria. Proc Natl Acad Sci USA 1989;86:661-664.
12. Grandchamp B, Picat C, Kauppinen R, Mignotte V, Peltonen L, Mustajoki P, Romeo PH, Goossens M, Nordmann Y: Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase. Eur J Clin Invest 1989;19:415-418.
13. Chen CH, Astrin KH, Lee G, Anderson KE, Desnick RJ: Acute intermittent porphyria: Identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes 'variant acute intermittent porphyria' with normal expression of the erythroid specific enzyme. J Clin Invest 1994;94:1927-1937.