Family study of acute intermittent porphyria and hereditary coproporphyria in Niigata and Akita Prefectures, Japan

Journal of Clinical Epidemiology

Volumn 49, Issue 10, 1996, Pages 1117-1123

  Sasaki, Hideo ^a   Kaneko, Kenzo ^b   Tsuneyama, Hideo ^c   Daimon, Makoto ^a   Yamatani, Keiichi ^a   Manaka, Hideo ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b NAGAOKA RED CROSS HOSPITAL   (Japan)

^c Tsuneyama Clinic   (Japan)

Author keywords

Acute intermittent porphyria (AIP); Hereditary coproporphyria (HCP); Holti test; Provocation test; Sex related manifestation; Watson Schwartz test

Indexed keywords

COPROPORPHYRIN; PORPHOBILINOGEN;

ACUTE INTERMITTENT PORPHYRIA; ADOLESCENT; ADULT; AGED; ARTICLE; CONTROLLED STUDY; DOMINANT INHERITANCE; FAMILY STUDY; FEMALE; HETEROZYGOTE; HUMAN; JAPAN; LOADING TEST; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PRIORITY JOURNAL; PROVOCATION TEST; PUBERTY; SCHOOL CHILD; SCREENING TEST; SEX DIFFERENCE; URINALYSIS;

EID: 0030273393     PISSN: 08954356     EISSN: None     Source Type: Journal    
DOI: 10.1016/0895-4356(96)00209-0     Document Type: Article

References (37)

1. 1. Kappas A, Sassa S, Galbraith R, et al. The porphyrias. In: Scribner R, Beadet AL, Sly WS, et al., eds. The Metabolic Basis of Inherited Disease, Vol. 1. New York: McGraw-Hill; 1989: 1305-1364.
2. 2. Bloomer JR, Bronkovsky HL. The porphyrias. In: Bone RC, Greenberg NJ, Kohler PO, et al., eds. Disease-a-Month. Chicago: Year Book Publisher; 1989.
3. 3. Nordman Y, Deybach JC. Human hereditary porphyrias. In: Daily HA, ed. Biosynthesis of Heme and Chlorophylls. New York: McGraw-Hill; 1990: 491-542.
4. 4. Tschudy DP, Lamon JM. Porphyrin metabolism and the porphyrias. In: Bondy PK, Rosenberg LE, eds. Metabolic Control and Disease. Philadelphia: Saunders; 1980: 939-1006.
5. 5. Watson CJ, Schwartz S. A simple test for urinary porphobilinogen. Proc Soc Exp Biol Med 1941; 47: 393-394.
6. 6. Holti G, Remington C, Tate BC, et al. An investigation of "porphyria cutanea tarda." Q J Med 1958; 27: 1-7.
7. 7. Goldberg A, Remington C. Diseases of Porphyrin Metabolism. Springfield, Illinois: Thomas Publisher; 1962.
8. 8. Waldenström J, Haeger-Aronson B. The porphyrias: A genetic problem. Prog Med Genet 1967; 5: 58-101.
9. 9. Dean G. Porphyrias. London: Pitman Medical Publishing; 1963.
10. 10. Waldenström J. The porphyrias as inborn error of metabolism. Am J Med 1957; 22: 758-773.
11. 11. Kaelbling R, Craig JB, Pasamarick B. Urinary porphobilinogen. Results of screening 2500 psychiatric patients. Arch Intern Med 1961; 5: 98-112.
12. 12. Barnse HD. Porphyria in South Africa: Fecal excretion of porphyrin. S Afr Med J 1958; 32: 680-683.
13. 13. Fromke VL, Bossenmair I, Cardinal R. Porphyria variegata. Study of a large kindred in the United States. Am J Med 1978; 65: 80-88.
14. 14. Dean G, Barnse HD. The inheritance of porphyria. Br Med J 1955; II: 89-94.
15. 15. With TK. Hereditary hepatic porphyria. Acta Med Scand 1969; 186: 117-124.
16. 16. Mazza U, Massaro AL, Battistini V, et al. Abnormalities of the porphyrin metabolism in relatives of patients with acute porphyria. Panminerva Med 1966; 8: 343-347.
17. 17. Loriaux L, Delena S, Brown H. Glycine loading test in acute intermittent porphyria patients and their relatives. Metabolism 1969; 10: 860-866.
18. 18. Brodie MJ, Thompson GG, Brodie MR, et al. Hereditary coproporphyria. Demonstration of the abnormalities in heme biosynthesis in peripheral blood. Q J Med 1977; XLVI: 229-241.
19. 19. Dean G, Kramer S, Lamb P. Coproporphyria. S Afr Med J 1969; 43: 138-142.
20. 20. Grandchamp B, Nordman Y. Decreased lymphocyte coproporphinogen III oxidase activity in hereditary coproporphyria. Biochem Biophys Res Commun 1977; 74: 1089-1095.
21. 21. Elder GH, Evans JO, Cox R, et al. The primary enzyme defect in hereditary coproporphyria. Lancet 1976; II: 1217-1219.
22. 22. Berger H, Goldberg A. Hereditary coproporphyria. Br Med J 1955; 2: 85-88.
23. 23. Grandchamp B, Phung N, Nordmann Y. Homozygous case of hereditary coproporphyria. Lancet 1977; II: 1348-1349.
24. 24. Grandchamp B, Picat C, de Rooij F, et al. A point mutation G→A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria. Nucleic Acids Res 1989; 17: 6637-6649.
25. 25. Scobie GA, Llewellyn DH, Urquhart AJ, et al. Acute intermittent porphyria caused by a C → T mutation that produces a stop codon in the porphobilinogen deaminase gene. Hum Genet 1990; 85: 631-634.
26. 26. Lundin G, Wedell A, Thunell S, et al. Two new mutations in the porphobilinogen deaminase gene and screening method using PCR amplification of specific alleles. Hum Genet 1994; 93: 59-62.
27. 27. Schreiber WE, Fong F, Jamani A. Frame shift mutations in exon 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria. Hum Genet 1994; 93: 552-556.
28. 28. Gu XF, de Rooij F, Voortman G, et al. Detection of eleven mutations causing acute intermittent prophyria using denaturing gradient gel electrophoresis. Hum Genet 1994; 93: 47-52.
29. 29. Daimon M, Yamatani K, Igarashi M, et al. Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping. Hum Genet 1993; 92: 549-553.
30. 30. Daimon M, Yamatani K, Igarashi M, et al. Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation. Hum Genet 1994; 93; 533-537.
31. 31. Morita M, Daimon M, Kashiwaba M, et al. A point mutation C to T in exon 8 of the porphobilinogen deaminase gene in a Japanese family with acute intermittent porphyria. Jpn J Hum Genet 1995; 40: 207-213.
32. 32. Taketani S, Kondo M, Furukawa H, et al. Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase. Biochim Biophys Acta 1994; 1183: 547-549.
33. 33. Martasek P, Camadro JM, Delfau-Larue MH, et al. Molecular cloning, sequencing and functional expression of a cDNA encoding human coproporphyrinogen oxidase. Proc Natl Acad Sci USA 1994; 91: 3024-3028.
34. 34. Delfau-Larue MH, Martasek P, Grandchamp B. Coproporphyrinogen oxidase: Gene organization and description of a mutation leading to exon 6 skipping. Hum Mol Genet 1994; 3: 1325-1330.
35. 35. Martasek P, Nordmann Y, Grandchamp B. Homozygous hereditary coproporphyria caused by an arginine to tryptophan substitution in coproporyphyrinogen oxidase and common intragenic polymorphism. Hum Mol Genet 1994; 3: 477-480.
36. 36. Fujita H, Kondo M, Taketani S, et al. Characterization of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria. Hum Mol Genet 1994; 3: 1807-1810.
37. 37. Lamoril J, Martasek P, Deybach JC, et al. A molecular defect in coproporphyrinogen oxidase gene causing harderporphyria, a variant form of hereditary coproporphyria. Hum Mol Genet 1995; 4: 275-278.