Postgrad Med J

HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER


[Advanced]
This Article
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this link to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Add article to my folders
Right arrow Download to citation manager
Right arrowRequest Permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Hift, R. J.
Right arrow Articles by Moore, M. R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Hift, R. J.
Right arrow Articles by Moore, M. R.

Postgraduate Medical Journal, 1993, Vol 69, 781-786

ARTICLES

Homozygous variegate porphyria: an evolving clinical syndrome [published erratum appears in Postgrad Med J 1994 Nov;70(829):855]

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:


Home page
 J. Biol. Chem.Home page
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]

Home page
 ANN INTERN MEDHome page
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]

Home page
 Clin. Chem.Home page
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
Terms and conditions relating to subscriptions purchased online  ¦  Website terms and conditions  ¦  Privacy policy
Copyright © 1993 The Fellowship of Postgraduate Medicine