PPT1 and neuronal ceroid lipofuscinosis: Infantile NCL is associated with an autosomal recessive mutation in the Cln1 gene which encodes palmitoyl-protein thioesterase-1 (PPT1), a lysosomal enzyme which catalyzes the cleavage of thioester linkage that attaches long-chain fatty acids (predominantly palmitate) with specific cysteine residues in polypeptides7, 8.