primary hyperoxaluria

primary hyperoxaluria
an autosomal recessive disorder of glyoxylate metabolism, characterized by urinary excretion of large amounts of oxalate and deposition of calcium oxalate in the tissues, especially the kidney, with nephrolithiasis, nephrocalcinosis, and renal failure; there are two types, caused by different mutations.

Medical dictionary. 2011.

Look at other dictionaries:

  • Primary hyperoxaluria — Classification and external resources DiseasesDB 6280 Primary hyperoxaluria results in increased excretion of oxalate, with oxalate stones being common. The oxalalate in these common conditions is derived from dietary sources or is secondary to… …   Wikipedia

  • Hyperoxaluria — Classification and external resources Oxalate ICD 10 E …   Wikipedia

  • Hyperoxaluria — An hereditary disorder that causes a special type of stone to form in the kidney and the urine beginning in childhood. Also known as oxalosis. The clinical features of this disease include the following: {{}}Urinary tract: Stones in the urine and …   Medical dictionary

  • type I — primary hyperoxaluria due to deficiency of alanine–glyoxylate transaminase as the result of mutation in the AGXT gene (locus: 2q36 q37) …   Medical dictionary

  • type II — primary hyperoxaluria, milder than type I, caused by mutation in the GRHPR gene (locus: 9cen), resulting in a defect in an enzyme complex involved in the metabolism of hydroxypyruvate to D glycerate …   Medical dictionary

  • PH1 — • primary hyperoxaluria type 1 …   Dictionary of medical acronyms & abbreviations

  • AGXT — Alanine glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine pyruvate aminotransferase), also known as AGXT, is a human gene.cite web | title = Entrez Gene: AGXT alanine glyoxylate aminotransferase (oxalosis I;… …   Wikipedia

  • GRHPR — Glyoxylate reductase/hydroxypyruvate reductase, also known as GRHPR, is a human gene.cite web | title = Entrez Gene: GRHPR glyoxylate reductase/hydroxypyruvate reductase| url = Cmd=ShowDetailView… …   Wikipedia

  • Kidney stone — Classification and external resources …   Wikipedia

  • oxalosis — Widespread deposition of calcium oxalate crystals in the kidneys, bones, arterial media, and myocardium, with increased urinary excretion of oxalate; may be an acquired disorder, as in oxalate poisoning …   Medical dictionary

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