Renal Aminoacidurias

Renal aminoaciduri

Svensk definition

Nedsatt förmåga till transport av aminosyror i njurkanalerna.

Engelsk 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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Aminoacidurias, Renal Renal Aminoaciduria Aminoaciduria, Renal