renal aminoaciduria
MONDO:0006944Mondo
Findings
No curated finding names renal aminoaciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved.
Definition from the Mondo Disease Ontology (MONDO:0006944), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of