Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I.
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.
C J
CJ
Danpure
P R
PR
Jennings
D000410:Alanine Transaminase / Q000172:deficiency*; D002499:Centrifugation, Density Gradient; D006016:Glycolates / Q000652:urine; D006801:Humans; D008099:Liver / Q000201:enzymology*; D008830:Microbodies / Q000201:enzymology*; D010070:Oxalates / Q000652:urine*; D019815:Oxalic Acid; D013347:Subcellular Fractions / Q000201:enzymology; D000637:Transaminases
D006016:Glycolates; D010070:Oxalates; C031149:glycolic acid; D019815:Oxalic Acid; D000637:Transaminases; D000410:Alanine Transaminase; C019635:Alanine-glyoxylate transaminase