Primary hyperoxaluria type 2.

Abstract

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.

• Authors: M A Mansell
• Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (Nephrol Dial Transplant) Vol. 10 Suppl 8 Pg. 58-60 ( 1995) ISSN: 0931-0509 [Print] England
• PMID: 8592629 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glyceric Acids
• glyceric acid
• Carbohydrate Dehydrogenases
• Glycerate dehydrogenase

Topics

• Adult
• Carbohydrate Dehydrogenases (deficiency)
• Child, Preschool
• Female
• Glyceric Acids (urine)
• Humans
• Hyperoxaluria, Primary (enzymology, therapy, urine)
• Infant
• Kidney Transplantation
• Male