mucolipidosis IIIC

mucolipidosis III gamma a rare variant form of mucolipidosis; it is an autososmal recessive disorder due to mutation in the GNPTG gene (locus: 16p), which encodes the gamma subunit of UDP-N-acetylglucosamine–lysosomal-enzyme N-acetylglucosamine-phosphotransferase, resulting in failure of lysosomal enzymes to be incorporated into lysosomes. It is clinically similar to mucolipidoses II alpha/beta and III alpha/beta but is less severe.