Primary hyperoxaluria type 2.
Most cases of primary hyperoxaluria are due to deficiency of hepatic peroxisomal alanine:glyoxylate aminotransferase [i.e. primary hyperoxaluria type 1 (PH1), McKusick 259900] and several hundred examples have been described since the original report in 1925. By contrast, primary hyperoxaluria type 2 (PH2, McKusick 260000) is very rare indeed with only 22 patients recorded since the original description in 1968. PH2 is characterized by hyperoxaluria and L-glyceric aciduria and is caused by deficiency of D-glycerate dehydrogenase/glyoxylate reductase. In comparison with PH1 much less is known about PH2 and considerable uncertainties remain about its frequency, clinical course and optimum management.
Mansell
M A
MA
St Peter's Hospital, London, UK.
D000328:Adult; D002237:Carbohydrate Dehydrogenases / Q000172:deficiency; D002675:Child, Preschool; D005260:Female; D005988:Glyceric Acids / Q000652:urine*; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000201:enzymology* / Q000628:therapy / Q000652:urine; D007223:Infant; D016030:Kidney Transplantation; D008297:Male
D005988:Glyceric Acids; C042971:glyceric acid; D002237:Carbohydrate Dehydrogenases; C020669:Glycerate dehydrogenase