Infantile Neuronal Ceroid Lipofuscinosis

Infantile Neuronal Ceroid Lipofuscinosis (INCL) is a rare genetic disorder that primarily affects infants and young children. It is caused by a deficiency in the enzyme palmitoyl protein thioesterase 1 (PPT1), which results in the accumulation of lipopigments in the brain and nervous system. Symptoms of INCL include developmental delays, seizures, and vision loss, and there is currently no cure for the disease.