Title
Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect : a novel type of primary hyperoxaluria Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect : a novel type of primary hyperoxaluria
Author
Faculty/Department
Faculty of Medicine and Health Sciences
University Hospital Antwerp
Publication type
article
Publication
New York, N.Y. ,
Subject
Human medicine
Source (journal)
Kidney international / International Society of Nephrology. - New York, N.Y.
Volume/pages
50(1996) :5 , p. 1747-1752
ISSN
0085-2538
ISI
A1996VN32600036
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
Considering the clinical heterogeneity of primary hyperoxaluria type I (PH1) and the fact that in many instances this diagnosis was made without enzymatic and immunohistochemical investigation, other disturbances of oxalate metabolism than those presently known can be expected in PH1. Using a gaschromatographic/mass spectrometric method that allows quantification of these acids, hyperoxaluria and hyperglycoluria was found repeatedly in two unrelated patients. The hyperoxaluria was unresponsive to pyridoxine. There was no nephrocalcinosis or urolithiasis. In the liver biopsy normal AGT activity and normal localization of this enzyme in the peroxisome was found. In one patient abnormal Km and maximal activity and mozaicism of AGT were excluded. Hyperoxaluria and hyperglycoluria were also found in other family members, suggesting autosomal dominant transmission. Although the underlying defect leading to hyperoxaluria and hyperglycoluria could not be identified in these patients, it is probable that they represent a separate type of primary hyperoxaluria.
E-info
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