title: Primary hyperoxalurias: diagnosis and treatment.
abstract: Primary hyperoxalurias (PH) comprise a group of three distinct metabolic diseases caused by derangement of glyoxylate metabolism in the liver. Recent years have seen advances in several aspects of PH research. This paper reviews current knowledge of the genetic and biochemical basis of PH, the specific epidemiology and clinical presentation of each type, and therapeutic approaches in different disease stages. Potential future specific therapies are discussed.
authors.affiliation: Division of Pediatric Nephrology, Shaare Zedek Medical Center, P.O.Box 3235, Jerusalem, Israel.
authors.forename: Efrat
authors.initials: E
authors.lastname: Ben-Shalom
authors.forename: Yaacov
authors.initials: Y
authors.lastname: Frishberg
mesh_terms: D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D009154:Mutation / Q000235:genetics; D053040:Nephrolithiasis / Q000175:diagnosis / Q000209:etiology*; D010070:Oxalates / Q000378:metabolism; D017582:Renal Replacement Therapy / Q000379:methods*; D000637:Transaminases / Q000235:genetics
chemical_list: D010070:Oxalates; D000637:Transaminases; C019635:Alanine-glyoxylate transaminase