Hepatic porphyrias in children

Journal of Inherited Metabolic Disease

Volumn 20, Issue 2, 1997, Pages 237-246

  Elder, G H ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PORPHOBILINOGEN SYNTHASE; UROPORPHYRINOGEN DECARBOXYLASE;

ACUTE INTERMITTENT PORPHYRIA; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CONFERENCE PAPER; DISEASE SEVERITY; DNA DETERMINATION; ENZYME ANALYSIS; ENZYME DEFICIENCY; GENE MUTATION; HEPATIC PORPHYRIA; HUMAN; ONSET AGE; PHENOTYPE; PORPHYRIA CUTANEA TARDA; PORPHYRIA VARIEGATA;

CHILD; GENES, DOMINANT; HOMOZYGOTE; HUMANS; PORPHOBILINOGEN SYNTHASE; PORPHYRIA, ACUTE INTERMITTENT; PORPHYRIAS, HEPATIC; UROPORPHYRINOGEN DECARBOXYLASE;

EID: 0030904874     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005313024076     Document Type: Conference Paper

References (40)

1. Anderson K (1995) The porphyrias. In Zakim D, Boyer TD, eds. Hepatology: A Textbook of Liver Disease. WB Sanders: Philadelphia, 417-463.
2. Barclay N (1974) Acute intermittent porphyria in childhood: a neglected diagnosis? Arch Dis Child 49: 404-405.
3. Beauvais P, Klein M-L, Denave L, et al (1976) Porphyria ague intermittente a l'age de quatre mois. Arch Franc Ped 33: 987-992.
4. Beukveld GJJ, Wolthers BG, Nordmann Y, et al (1990) A retrospective study of a patient with homozygous form of acute intermittent porphyria. J Inher Metab Dis 13: 673-683.
5. Coakley J, Hawkins R, Crinis N, et al (1990) An unusual case of variegate porphyria with possible homozygous inheritance. Aust NZ J Med 20: 587-589.
6. Cripps DJ, Peters HA, Gocmen A, et al (1984) Porphyria turcica due to hexachlorobenzene: a 20 to 30 year follow-up study on 204 patients. Br J Dermatol 11: 413-422.
7. Deybach J-C, Puy H (1995) Porphobilinogen deaminase gene structure and molecular defects. J Bioenerg Biomembr 27: 197-206.
8. Doss M, von Tieperman R, Schneider J, Schmid H (1979) New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestations. Klin Wochenschr 57: 1123-1127.
9. Doss M, von Tiepermann R, Kepp W (1984) Harderoporphyrin coproporphyria. Lancet 1: 292.
10. Elder GH (1995) Disorders of porphyria metabolism. In Soldin SJ, Rifai N, Hicks JMB, eds. Biochemical Basis of Paediatric Disease, 2nd edn. Washington: AACC Press, 601-620.
11. Elder GH, Roberts AG (1995) Uroporphyrinogen decarboxylase. J Bioenerg Biomembr 27: 207-214.
12. Grandchamp B, Phung N, Nordmann Y (1977) Homozygous case of hereditary coproporphyria. Lancet 2: 1348-1349.
13. Grandchamp B, Lamoril J, Puy H (1995) Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria. J Bioenerg Biomembr 27: 215-220.
14. Hift R, Meissner PN, Todd G, et al (1993a) Homozygous variegate porphyria: an evolving clinical syndrome. Postgrad Med J 69: 781-786.
15. Hift R, Meissner PN, Todd G (1993b) Hepatoerythropoietic porphyria precipitated by viral hepatitis. Gut 34: 1632-1634.
16. Ishida N, Fujita H, Fukuda Y, et al (1992) Cloning and expression of the defective genes from a patient with δ-Aminolevulinate dehydratase porphyria. J Clin Invest 89: 1431-1437.
17. Kappas A, Sassa S, Galbraith RA, Nordmann Y (1995) The porphyrias. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Molecular and Metabolic Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2103-2159.
18. Kordac V, Deybach J-C, Martasek P, et al (1984) Homozygous variegate porphyria. Lancet 1: 851.
19. Koszo F, Elder GH, Roberts A, Simon N (1990) Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity. Br J Dermatol 122: 365-370.
20. Lamoril J, Martasek P, Deybach J-C, et al (1995) A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. Hum Mol Genet 4: 275-278.
21. Llewellyn DH, Elder GH, Kalsheker N, et al (1987) DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria. Lancet 2: 706-708.
22. Llewellyn DH, Smyth SJ, Elder GH, et al (1992) Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene. Hum Genet 89: 97-98.
23. Mallon E, Wojnarowska F, Hope P, Elder G (1995) Neonatal bullous eruption as a result of transient hyperporphyrinaemia in a premature infant with haemolytic disease of the new-born. J Am Acad Dermatol 33: 333-336.
24. Martasek P, Nordmann Y, Grandchamp B (1994) Homozygous hereditary coproporphyria caused by an arginine to tryptophan substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. Hum Mol Genet 3: 477-480.
25. Meissner PN, Dailey TA, Hift RJ, et al (1996) A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nature Genet 13: 95-97.
26. Mitchell G, Larochelle J, Lambert M, et al (1990 Neurological crises in hereditary tyrosinaemia. N Engl J Med 322: 432-437.
27. Moran-Jimenez MJ, Ged C, Romana M, et al (1996) Uroporphyrinogen decarboxylase: complete gene sequence and molecular study of three families with hepatoerythropoietic porphyria. Am J Hum Genet 58: 712-721.
28. Moreau-Gaudry F, Ged C, de Verneuil H (1996) Gene therapy for erythropoietic porphyrias. Gene Ther, 12: 843-844.
29. Nordmann Y, Grandchamp B, de Verneuil H, et al (1983) Harderoporphyria: a variant hereditary coproporphyria. J Clin Invest 72: 1139-1149.
30. Norris PG, Elder GH, Hawk JLM (1990) Homozygous variegate porphyria: a case report. Br J Dermatol 122: 253-257.
31. Parsons JL, Sahn EE, Holden KR, Pai GS (1994) Neurological disease in a child with hepatoerythropoietic porphyria. Pediatr Dermatol 11: 216-221.
32. Plewinska M, Thunell S, Holmberg L, et al (1991) δ-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote. Am J Hum Genet 49: 167-174.
33. Poh-Fitzpatrick MB, Zaider E, Sciales C, et al (1990) Cutaneous photosensitivity and coproporphyrin abnormalities in the Alagille syndrome. Gastroenterology 99: 831-835.
34. Roberts AG, Whatley SD, Dailey T, et al (1996) Identification of a mutation in the protoporphyrinogen oxidase gene in homozygous variegate porphyria. Hepatology 23: I-94.
35. Sassa S, Fujita H, Doss M, et al (1991) Hereditary hepatic porphyria due to homozygous δ-aminolevulinic acid dehydratase deficiency: studies in lymphocytes and erythrocytes. Eur J Clin Invest 21: 244-248.
36. Smith SG (1986) Hepatoerythropoietic porphyria. Semin Dermatol 5: 125-137.
37. Thunell S, Holmberg L, Lundgren J (1987) Aminolaevulinate dehydratase porphyria in infancy. J Clin Chem Clin Biochem 25: 5-14.
38. Verneuil H de, Doss M, Brusco N, et al (1985) Hereditary hepatic porphyria with delta aminolevulinate dehydratase deficiency: immunologic characterization of the non-catalytic enzyme. Hum Genet 69: 174-177.
39. Warnich L, Kotze MJ, Groenewald IM, et al (1996) Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. Hum Mol Genet 5: 981-984.
40. Xu W, Solis C, Bermejo AM, et al (1995) Clinical and molecular delineation of severe homozygous dominant acute intermittent porphyria. Pediatr Res 37: A155.