Heterogeneity of Acute Intermittent Porphyria: A Subtype with Normal Erythrocyte Porphobilinogen Deaminase Activity in Germany1),2)

Clinical Chemistry and Laboratory Medicine

Volumn 34, Issue 8, 1996, Pages 613-618

  Groβ, Ulrich ^a   Honcamp, Michael ^a   Manfred, O Doss ^a  

^a UNIVERSITY HOSPITAL MARBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BARBITURIC ACID DERIVATIVE; CARBAMAZEPINE; ERYTHROCYTE ENZYME; GLUCOSE; PORPHOBILINOGEN DEAMINASE; PORPHYRIN;

ACUTE INTERMITTENT PORPHYRIA; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; PORPHYRIN METABOLISM; PRIORITY JOURNAL; URINARY EXCRETION;

ERYTHROCYTES; FEMALE; GENETIC HETEROGENEITY; GERMANY; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MALE; PEDIGREE; PORPHYRIA, ACUTE INTERMITTENT;

EID: 0029813217     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/cclm.1996.34.8.613     Document Type: Article

References (17)

1. Lundin G., Hashemi J., Floderus Y., Thunell S., Sagen E., Laegreid A., et al., Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria. J Med Genet 1995; 32:979-981.
2. Andersson C. Thunell S., Floderus Y., Forsell C., Lundin G., Anvret M., et al., Diagnosis of acute intermittent porphyria in Northern Sweden: an evaluation of mutation analysis and biochemical methods. J Int Med 1995; 235:301-308.
3. Doss M. Hepatic porphyrias. Pathobiochemical, diagnostic and therapeutic implications. In: Popper H., Schaffner F., editors. Progress in liver diseases. New York: Grune and Stratton, 1982; 8:573-597.
4. Nordmann Y. Human hereditary porphyrias. In: Mclntyre N., Benhamou J. P., Bircher J., Rizetto M., Kodes J., editors. Oxford, New York, Tokyo: Oxford Textbook of Clinical Hepatology, Oxford University Press. 1991; 2:974-985.
5. Mustajoki P. Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria. Ann Intern Med 1981; 95:162-166.
6. Mustajoki P., Tenhunen R. Variant of acute intermittent porphyria with normal erythrocyte uroporphyrinogen-I-synthase activity. Eur J Clin Invest 1985; 15:281-284.
7. Doss M., von Tiepermann R. Uroporphyrinogen-Synthase in Erythrocyten bei akuter intermittierender Porphyrie: Neue pathobiochemische Aspekte. J Clin Chem Clin Biochem 1978; 16:111-118.
8. Doss M. O., Porphyrins and porphyrin precursors. In: Curtius HCh, Roth M., editors. Clinical Biochemistry. Principles and Methods. New York: de Gruyter, 1974; 2:1323-1371.
9. Yoo H. W., Warner C. A., Chen C. H., Desnick R. J., Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene. Genomics 1993; 15:21-29.
10. Grandchamp B., Picat C., Kauppinen R., Mignotte V., Peltonen L., Mustajoki P., et al., Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase. Eur J Clin Invest 1989; 19:415-418.
11. Bourgeois F., Gu X. F., Deybach J. C., Te Velde M. P., de Rooij F., Nordmann Y., Grandchamp B. Denaturing gradient gel electrophoresis for rapid detection of latent carriers of a subtype of acute intermittent porphyria with normal erythrocyte porphobilinogen deaminase activity. Clin Chem 1992; 38:93-95.
12. Mazzetti M. B., Tomio J. M., Human porphobilinogen deaminase, isolation and purification of the hepatic isoform. An Asoc Quim Argent 1993; 81:381-389.
13. Desnick R. J., Ostasiewicz L., Tischler P., Mustajoki P. Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobiiinogen deaminase. Demonstration of non-catalytic enzyme intermediates stabilized by bound protein. J Clin Invest 1985; 76:865-874.
14. Mustajoki P., Desnick R. J., Genetic heterogeneity in acute intermittent porphyria: characterization and frequency of porphobilinogen deaminase mutations in Finland. Br Med J 1985; 291:505-509.
15. Blum M., Koehl C., Abecassis J. Variations in erythrocyte uroporphyrinogen I synthetase activity in non porphyrias. Clin Chim Acta 1978; 87:119-125.
16. Doss M., Schäfer H. J., Carbamazepin-induced acute porphyria syndrome. Lancet 1984; 1:1026.
17. Kappas A., Sassa S., Galbraith R. A., Nordmann Y. The porphyrias. In: Scriver C. R., Beaud et al., Sly W. S., Valle D., editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 1995:2103-2159.