Biomarker, clues to possible therapy found in novel childhood neurogenetic disease

ScienceDaily - Health and Medicine News

Researchers studying a rare genetic disorder that causes severe, progressive neurological problems in childhood have discovered insights into biological mechanisms that drive the disease, along with early clues that an amino acid supplement might offer a targeted therapy. The disorder, called TBCK-encephalopathy, disrupts autophagy, an important cellular waste-disposal process.