Skip to main content
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1977 Aug;52(8):646–650. doi: 10.1136/adc.52.8.646

Hereditary coproporphyria and epilepsy.

A B Houston, M J Brodie, M R Moore, G G Thompson, J B Stephenson
PMCID: PMC1544641  PMID: 921312

Abstract

A 9-year-old boy with mental deterioration and epilepsy suffered an acute attack of hereditary coproporphyria associated with worsening of seizure control. Leucocyte coproporphyrinogen oxidase activity was undetectable in the patient during this attack, and was reduced in his mother, a latent case. The complex relationship between porphyria, epilepsy, and anticonvulsant drugs is discussed.

Full text

PDF
646

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BERGER H., GOLDBERG A. Hereditary coproporphyria. Br Med J. 1955 Jul 9;2(4931):85–88. doi: 10.1136/bmj.2.4931.85. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Barclay N. Acute intermittent porphyria in childhood. A neglected diagnosis? Arch Dis Child. 1974 May;49(5):404–406. doi: 10.1136/adc.49.5.404. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Birchfield R. I., Cowger M. L. Acute intermittent porphyria with seizures. Anticonvulsant medication-induced metabolic changes. Am J Dis Child. 1966 Dec;112(6):561–565. doi: 10.1001/archpedi.1966.02090150105011. [DOI] [PubMed] [Google Scholar]
  4. Bottomley S. S., Tanaka M., Everett M. A. Diminished erythroid ferrochelatase activity in protoporphyria. J Lab Clin Med. 1975 Jul;86(1):126–131. [PubMed] [Google Scholar]
  5. Brett E. M. Minor epileptic status. J Neurol Sci. 1966 Jan-Feb;3(1):52–75. doi: 10.1016/0022-510x(66)90039-6. [DOI] [PubMed] [Google Scholar]
  6. CHISOLM J. J., Jr PEDIATRIC ASPECTS OF THE PORPHYRIAS. J Pediatr. 1964 Feb;64:159–173. doi: 10.1016/s0022-3476(64)80260-2. [DOI] [PubMed] [Google Scholar]
  7. Chevrie J. J., Aicardi J. Childhood epileptic encephalopathy with slow spike-wave. A statistical study of 80 cases. Epilepsia. 1972 Apr;13(2):259–271. doi: 10.1111/j.1528-1157.1972.tb05260.x. [DOI] [PubMed] [Google Scholar]
  8. Dowdle E. B., Mustard P., Eales L. Delta-aminolaevulinic acid synthetase activity in normal and porphyric human livers. S Afr Med J. 1967 Nov 4;41(42):1093–1096. [PubMed] [Google Scholar]
  9. Gatfield P. D., Haust H. L., Durrant D. Porphyria in childhood following transient neonatal quadriplegia. Dev Med Child Neurol. 1972 Aug;14(4):495–501. doi: 10.1111/j.1469-8749.1972.tb02623.x. [DOI] [PubMed] [Google Scholar]
  10. Goldberg A., Rimington C., Lochhead A. C. Hereditary coproporphyria. Lancet. 1967 Mar 25;1(7491):632–636. doi: 10.1016/s0140-6736(67)92538-x. [DOI] [PubMed] [Google Scholar]
  11. Haeger-Aronsen B., Stathers G., Swahn G. Hereditary coproporphyria. Study of a Swedish family. Ann Intern Med. 1968 Aug;69(2):221–227. doi: 10.7326/0003-4819-69-2-221. [DOI] [PubMed] [Google Scholar]
  12. Hunter J. A., Khan S. A., Hope E., Beattie A. D., Beveridge G. W., Smith A. W., Goldberg A. Hereditary coproporphyria. Photosensitivity, jaundice and neuropsychiatric manifestations associated with pregnancy. Br J Dermatol. 1971 Apr;84(4):301–310. doi: 10.1111/j.1365-2133.1971.tb14223.x. [DOI] [PubMed] [Google Scholar]
  13. Jaeger A., Tempe J. D., Geisler F., Nordmann Y., Mantz J. M. La coproporphyrie héréditaire. Sept observations. Nouv Presse Med. 1975 Nov 15;4(39):2783–2787. [PubMed] [Google Scholar]
  14. Kaufman L., Marver H. S. Biochemical defects in two types of human hepatic porphyria. N Engl J Med. 1970 Oct 29;283(18):954–958. doi: 10.1056/NEJM197010292831803. [DOI] [PubMed] [Google Scholar]
  15. LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
  16. Lamb P., Dean G., Kramer S. Coproporphyria. S Afr Med J. 1969 Feb 8;43(6):138–142. [PubMed] [Google Scholar]
  17. Lomholt J. C., With T. K. Hereditary coproporphyria. A family with unusually few and mild symptoms. Acta Med Scand. 1969 Jul-Aug;186(1-2):83–85. [PubMed] [Google Scholar]
  18. MAUZERALL D., GRANICK S. The occurrence and determination of delta-amino-levulinic acid and porphobilinogen in urine. J Biol Chem. 1956 Mar;219(1):435–446. [PubMed] [Google Scholar]
  19. McIntyre N., Pearson A. J., Allan D. J., Craske S., West G. M., Moore M. R., Beattie A. D., Paxton J., Goldberg A. Hepatic delta-aminolaevulinic acid synthetase in an attack of hereditary coproporphyria and during remission. Lancet. 1971 Mar 20;1(7699):560–564. doi: 10.1016/s0140-6736(71)91161-5. [DOI] [PubMed] [Google Scholar]
  20. Meyer U. A., Strand L. J., Doss M., Rees A. C., Marver H. S. Intermittent acute porphyria--demonstration of a genetic defect in porphobilinogen metabolism. N Engl J Med. 1972 Jun 15;286(24):1277–1282. doi: 10.1056/NEJM197206152862401. [DOI] [PubMed] [Google Scholar]
  21. Sasaki H., Kaneko K., Tsuneyama H. Activities of delta-aminolevulinic acid synthetase in the liver and bone marrow of hepatic coproporphyria (hereditary coproporphyria). Acta Med Biol (Niigata) 1969 Sep;17(2):97–99. [PubMed] [Google Scholar]
  22. del Batlle A. M., Benson A., Rimington C. Purification and properties of coproporphyrinogenase. Biochem J. 1965 Dec;97(3):731–740. doi: 10.1042/bj0970731. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES