MFSD8 (major facilitator superfamily domain-containing 8) (MIM * 611124, NM_152778.3) was originally associated with neuronal ceroid lipofuscinosis (NCLs), a group of severe neurodegenerative disorders, characterized by the lysosomal accumulation of abnormal autofluorescent material (lipofuscin-like ceroid lipopigments) leading to selective damage and loss of neurons [18,19]. This evidence concerns the gene MFSD8 and infantile neuronal ceroid lipofuscinosis.