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Primary hyperoxaluria type 1

MONDO:0009823

A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.

Also known as: AGXT primary hyperoxaluria, PH1, glycolic aciduria, peroxisomal alanine-glyoxylate aminotransferase deficiency, primary hyperoxaluria caused by mutation in AGXT, primary hyperoxaluria type 1, primary hyperoxaluria type I, HP1

33 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Primary hyperoxaluria (9) Carbohydrate metabolism disease (3) Disease of genetic or genomic mechanism (2) Inborn carbohydrate metabolic disorder (2) Peroxisomal disease (2)
Trials to join now! 15 Not yet recruiting 5 Not yet finished but already full! 5 Completed 8
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