Background
adult-onset, neurovisceral lysosomal disease, autosomal recessive
DISEASE, NIEMANN-PICK DISEASE TYPE C
Niemann-Pick disease type C (NPC) is a rare (1:120,000 live births), prematurely fatal, autosomal recessive, neurovisceral lysosomal disease that predominantly affects children. The disease typically begins in early childhood, is chronic, progressive, and severely reduces quality of life. Adolescent and adult-onset cases are being increasingly recognized [