|
|
||||||||||||||
|
|
|||||||||||||||
Postgraduate Medical Journal, 1993, Vol 69, 781-786
ARTICLES |
RJ Hift, PN Meissner, G Todd, P Kirby, D Bilsland, P Collins, J Ferguson and MR Moore
MRC/UCT Liver Research Centre, Department of Medicine, University of Cape Town, Observatory, South Africa.
Variegate porphyria is one of the most frequently encountered genetic conditions in South Africa. It is inherited as an autosomal dominant disease and in excess of 300 heterozygous cases have been studied by the Cape Town unit. Despite this, the homozygous condition has not previously been encountered in South Africa. We report two cases of homozygous variegate porphyria, one of whom represents the first South African case. We delineate a syndrome principally characterized by growth retardation, developmental delay, epileptic seizures, photosensitivity and an abnormal porphyrin excretion pattern. In addition we describe, in one case, two features not previously reported: skin disease in areas unexposed to light and a severe sensory neuropathy which may account at least in part for the hand deformities of this disorder.
| © The Fellowship of Postgraduate Medicine, 1993 |
This article has been cited by other articles:
![]() |
H. R. Corradi, A. V. Corrigall, E. Boix, C. G. Mohan, E. D. Sturrock, P. N. Meissner, and K. R. Acharya Crystal Structure of Protoporphyrinogen Oxidase from Myxococcus xanthus and Its Complex with the Inhibitor Acifluorfen J. Biol. Chem., December 15, 2006; 281(50): 38625 - 38633. [Abstract] [Full Text] [PDF] |
||||
![]() |
K. E. Anderson, J. R. Bloomer, H. L. Bonkovsky, J. P. Kushner, C. A. Pierach, N. R. Pimstone, and R. J. Desnick Recommendations for the Diagnosis and Treatment of the Acute Porphyrias Ann Intern Med, March 15, 2005; 142(6): 439 - 450. [Abstract] [Full Text] [PDF] |
||||
![]() |
R. Mamet, M. Sztern, A. Rachmel, B. Stahl, D. Flusser, and N. Schoenfeld Lead Poisoning: A New Biochemical Perspective on the Differentiation Between Acquired and Hereditary Neuroporphyria Clin. Chem., September 1, 2001; 47(9): 1710 - 1713. [Full Text] [PDF] |
||||
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS | REGISTER |