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.
Cystinurias
D006801
Humans
Members of the species Homo sapiens.
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006863
Hydrogen-Ion Concentration
The normality of a solution with respect to HYDROGEN ions; H+. It is related to acidity measurements in most cases by pH
pH,Concentration, Hydrogen-Ion,Concentrations, Hydrogen-Ion,Hydrogen Ion Concentration,Hydrogen-Ion Concentrations
D014556
Urine
Liquid by-product of excretion produced in the kidneys, temporarily stored in the bladder until discharge through the URETHRA.
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