disease has basis in dysfunction of AGXT primary hyperoxaluria primary hyperoxaluria type 1 AGXT primary hyperoxaluria DOID:0111670 GARD:0002835 HP1 ICD10:E74.8 ICD9:271.8 MESH:C536414 MONDO:0009823 NCIT:C123212 OMIM:259900 Orphanet:93598 Oxalosis 1 Primary hyperoxaluria type 1 (PH1) is 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. SCTID:65520001 UMLS:C0268164 alanine-glyoxylate aminotransferase deficiency glycolic aciduria hepatic AGT deficiency https://rarediseases.info.nih.gov/diseases/2835/primary-hyperoxaluria-type-1 hyperoxaluria, primary, type 1 hyperoxaluria, primary, type I peroxisomal alanine glyoxylate aminotransferase deficiency peroxisomal alanine-glyoxylate aminotransferase deficiency peroxisomal alanine:glyoxylate aminotransferase deficiency primary hyperoxaluria caused by mutation in AGXT primary hyperoxaluria type I serine pyruvate aminotransferase deficiency serine:pyruvate aminotransferase deficiency disorder of peroxisomal alpha-, beta- and omega-oxidation