Pediatrics / Children's Health News From Medical N

New Insight Into A Fatal Childhood Neurodegenerative Disorder Infantile Neuronal Ceroid Lupofuscinoses (INCL)

Infants with the childhood neurodegenerative disorder infantile neuronal ceroid lupofuscinoses (INCL) suffer from seizures and involuntary twitching/jerking of a single muscle or a group of muscles. The disease, which is fatal, is caused by deficiency in the protein PPT1 as a result of mutations in the PPT1 gene.