Last update 19 Sep 2024

Cystinuria

Basic Info

Synonyms
CSNU, CSNU - Cystinuria, CSNU1, FORMERLY
+ [19]
Introduction
An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.

Analysis

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