{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T20:52:42Z","timestamp":1780606362749,"version":"3.54.1"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1993,10,11]],"date-time":"1993-10-11T00:00:00Z","timestamp":750297600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1994,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Two patients with atypical manifestations of aberrant peroxisomal biogenesis are described. Contrary to previous studies, which had shown that Zellweger syndrome patients usually have normal levels of urinary oxalate excretion, the patients in the present study had evidence of abnormal oxalate metabolism in the form of hyperoxaluria and, in one of the patients, calcium oxalate urolithiasis. Activity of the liver\u2010specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT), which is a major determinant of the level of endogenous oxalate synthesis in humans, was normal in one patient and markedly supranormal in the other. Using the technique of post\u2010embedding protein A\u2010colloidal gold immunoelectron microscopy, AGT was found to be mainly cytosolic in the livers of both patients, with significant amounts also localized in the nuclei. In a small minority of the hepatocytes of one patient, who was homozygous for the more common (major) AGT allele, large numbers of unidentified fibrillar arrays were found in the cytosol, which labelled heavily for immunoreactive AGT. The background cytosolic AGT labelling was markedly reduced in such cells when compared to the majority of cells that did not contain fibrils. In the other patient, who was heterozygous for the major and minor AGT alleles, there appeared to be low levels of mitochondrial AGT labelling. In the light of these data, the possible metabolic function of cytosolic AGT in the livers of panperoxisomal disease patients is discussed.<\/jats:p>","DOI":"10.1007\/bf00735393","type":"journal-article","created":{"date-parts":[[2004,12,3]],"date-time":"2004-12-03T13:40:11Z","timestamp":1102081211000},"page":"27-40","source":"Crossref","is-referenced-by-count":18,"title":["Cytosolic compartmentalization of hepatic alanine: Glyoxylate aminotransferase in patients with aberrant peroxisomal biogenesis and its effect on oxalate metabolism"],"prefix":"10.1002","volume":"17","author":[{"given":"C. J.","family":"Danpure","sequence":"first","affiliation":[{"name":"Biochemical Genetics Research Group MRC Clinical Research Centre  Harrow Middlesex HA1 3UJ UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Fryer","sequence":"additional","affiliation":[{"name":"Electron Microscopy Support Group MRC Clinical Research Centre  Harrow Middlesex HA1 3UJ UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Griffiths","sequence":"additional","affiliation":[{"name":"Electron Microscopy Support Group MRC Clinical Research Centre  Harrow Middlesex HA1 3UJ UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. M.","family":"Guttridge","sequence":"additional","affiliation":[{"name":"Electron Microscopy Support Group MRC Clinical Research Centre  Harrow Middlesex HA1 3UJ UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. R.","family":"Jennings","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Research Group MRC Clinical Research Centre  Harrow Middlesex HA1 3UJ UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Allsop","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Research Group MRC Clinical Research Centre  Harrow Middlesex HA1 3UJ UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. B.","family":"Moser","sequence":"additional","affiliation":[{"name":"Kennedy Krieger Institute  Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Naidu","sequence":"additional","affiliation":[{"name":"Kennedy Krieger Institute  Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. 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