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Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I
Author(s) -
Danpure C.J.,
Jennings P.R
Publication year - 1986
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(86)80563-4
Subject(s) - primary hyperoxaluria , peroxisome , glyoxylate cycle , peroxisomal disorder , alanine aminotransferase , alanine , biochemistry , medicine , chemistry , endocrinology , enzyme , biology , kidney , amino acid , receptor
Activities of alanine:glyoxylate aminotransferase in the livers of two patients with primary hyperoxaluria type I were substantially lower than those found in five control human livers. Detailed subcellular fractionation of one of the hyperoxaluric livers, compared with a control liver, showed that there was a complete absence of peroxisomal alanine:glyoxylate aminotransferase. This enzyme deficiency explains most of the biochemical characteristics of the disease and means that primary hyperoxaluria type I should be added to the rather select list of peroxisomal disorders.