primary hyperoxaluria type 1
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.
MONDO:0017753
obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation (obsolete MONDO:0017753)
excluded_subClassOf
MONDO:0002474
primary hyperoxaluria
is_a
MONDO:0100278
alanine glyoxylate aminotransferase deficiency
is_a
AGXT primary hyperoxaluria
exact
HP1
related
PH1
exact
glycolic aciduria
exact
hyperoxaluria, primary, type I
related
peroxisomal alanine glyoxylate aminotransferase deficiency
related
peroxisomal alanine-glyoxylate aminotransferase deficiency
exact
primary hyperoxaluria caused by mutation in AGXT
exact
primary hyperoxaluria type 1
exact
primary hyperoxaluria type I
exact
serine pyruvate aminotransferase deficiency
related