Primary hyperoxaluria type 1 [Supplementary Concept]
An autosomal recessive form of primary hyperoxaluria, where CALCIUM OXALATE accumulates in different tissues, especially the KIDNEY, resulting in RENAL FAILURE. Mutations in the AGXT gene have been identified. OMIM: 259900
Date introduced: August 25, 2010
MeSH Unique ID: C536414
Heading Mapped to:
Entry Terms:
- Glycolic aciduria
- Alanine-glyoxylate aminotransferase deficiency
- Hepatic AGT Deficiency
- Hyperoxaluria, Primary, Type I
- Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
- Serine:Pyruvate Aminotransferase Deficiency
- Oxalosis I
- Oxalosis 1
- Peroxisomal alanine glyoxylate aminotransferase deficiency