An inherited metabolic disease that is has its basis in the disruption of neutral amino acid transport.
Comprehensive, easy-to-understand information about this condition
Checking for content...
blue diaper syndrome
MONDO:0008877
ocular cystinosis
MONDO:0009064
juvenile nephropathic cystinosis
MONDO:0009066
cystinuria
MONDO:0009067
hyperdibasic aminoaciduria type 1
MONDO:0009108
lysinuric protein intolerance
MONDO:0009109