Mitochondrial Hydroxyproline Metabolism: Implications for Primary Hyperoxaluria

Hydroxyproline metabolism in mouse models of primary hyperoxaluria

John Knight, Ross P. Holmes, Scott D. Cramer, Tatsuya Takayama, and Eduardo Salido Departments of Urology and Cancer Biology, Wake Forest University Health Sciences, Winston-Salem, North Carolina; Department of Pharmacology, University of Colorado, Denver, Anschutz Medical Campus, Aurora, Colorado; and Center for Biomedical Research on Rare Diseases, Hospital Universitario Canarias, Instituto T...

Re: hydroxyproline metabolism in mouse models of primary hyperoxaluria.

Primary hyperoxaluria type 1 (PH1) and type 2 (PH2) are rare genetic diseases that result from deficiencies in glyoxylate metabolism. The increased oxalate synthesis that occurs can lead to kidney stone formation, deposition of calcium oxalate in the kidney and other tissues, and renal failure. Hydroxyproline (Hyp) catabolism, which occurs mainly in the liver and kidney, is a prominent source o...

Structural and Biochemical Studies of Human 4-hydroxy-2-oxoglutarate Aldolase: Implications for Hydroxyproline Metabolism in Primary Hyperoxaluria

BACKGROUND 4-hydroxy-2-oxoglutarate (HOG) aldolase is a unique enzyme in the hydroxyproline degradation pathway catalyzing the cleavage of HOG to pyruvate and glyoxylate. Mutations in this enzyme are believed to be associated with the excessive production of oxalate in primary hyperoxaluria type 3 (PH3), although no experimental data is available to support this hypothesis. Moreover, the identi...

Primary Hyperoxaluria

Primary hyperoxalurias are rare recessive inherited inborn errors of glyoxylate metabolism. They are responsible for progressive renal involvement, which further lead to systemic oxalate deposition, which can even occur in infants. Primary hyperoxaluria type 1 is the most common form in Europe and is due to alanine-glyoxylate aminostransferase deficiency, a hepatic peroxisomal pyridoxin-depende...

Primary hyperoxaluria